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Journal articles on the topic 'Pfeiffer Syndrome'

Author: Grafiati

Published: 3 June 2025

Last updated: 20 July 2025

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1

Kalathia, MitulB, YogeshN Parikh, MeeraD Dhami, and PalakT Hapani. "Pfeiffer syndrome." Journal of Pediatric Neurosciences 9, no. 1 (2014): 85. http://dx.doi.org/10.4103/1817-1745.131499.

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2

Crawford, Doreen. "Pfeiffer syndrome." Nursing Children and Young People 30, no. 01 (2018): 21. http://dx.doi.org/10.7748/ncyp.30.01.21.s19.

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3

Lee, Duk Yong, Kye Hyoung Lee, Han Soo Kim, and Hyung Ro Moon. "Pfeiffer Syndrome." Journal of the Korean Orthopaedic Association 24, no. 6 (1989): 1744. http://dx.doi.org/10.4055/jkoa.1989.24.6.1744.

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4

Greig, Aina V. H., Janelle Wagner, Stephen M. Warren, Barry Grayson, and Joseph G. McCarthy. "Pfeiffer Syndrome." Journal of Craniofacial Surgery 24, no. 1 (2013): 204–15. http://dx.doi.org/10.1097/scs.0b013e31826704be.

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5

Raposo-Amaral, Cassio Eduardo, Rafael Denadai, Geiza Máximo, Cesar Augusto Raposo-Amaral, and Enrico Ghizoni. "Pfeiffer Syndrome." Plastic and Reconstructive Surgery - Global Open 8, no. 4 (2020): e2788. http://dx.doi.org/10.1097/gox.0000000000002788.

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6

Moore, M. H., S. B. Cantrell, J. A. Trott, and D. J. David. "Pfeiffer Syndrome." Journal of Craniofacial Surgery 7, no. 1 (1996): 84. http://dx.doi.org/10.1097/00001665-199601000-00023.

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7

Winter, Robin M. "Pfeiffer syndrome." American Journal of Medical Genetics 49, no. 3 (1994): 357. http://dx.doi.org/10.1002/ajmg.1320490328.

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8

Britto, Jonathan A., Rachel L. Moore, Robert D. Evans, Richard D. Hayward, and Barry M. Jones. "Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes." Journal of Neurosurgery 95, no. 4 (2001): 660–73. http://dx.doi.org/10.3171/jns.2001.95.4.0660.

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Object. Heterogeneous mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause a range of craniosynostosis syndromes. The specificity of the Apert syndrome—affected cranial phenotype reflects its narrow mutational range: 98% of cases of Apert syndrome result from an Ser252Trp or Pro253Arg mutation in the immunoglobulin-like (Ig)IIIa extracellular subdomain of FGFR2. In contrast, a broad range of mutations throughout the extracellular domain of FGFR2 causes the overlapping cranial phenotypes of Pfeiffer and Crouzon syndromes and related craniofacial dysostoses. Methods. In this p

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9

Kohan, Emil, Michael T. Longaker, JoAnna Nguyen, et al. "Pfeiffer Syndrome Twins." Journal of Craniofacial Surgery 20, no. 3 (2009): 811–15. http://dx.doi.org/10.1097/scs.0b013e3181a2e545.

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10

Herman, Thomas E., and Marilyn J. Siegel. "Pfeiffer Syndrome, Type II." Journal of Perinatology 21, no. 8 (2001): 565–67. http://dx.doi.org/10.1038/sj.jp.7210568.

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11

Moore, M. H., and A. Hanieh. "Hydrocephalus in pfeiffer syndrome." Journal of Clinical Neuroscience 1, no. 3 (1994): 202–4. http://dx.doi.org/10.1016/0967-5868(94)90030-2.

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12

Yurochko, Fedir, Dzvenyslava Kopanska, Oleksandra Bonetska, and Mykola Bihun. "Pfeiffer syndrome – a case report." Pediatria i Medycyna Rodzinna 17, no. 4 (2021): 358–61. http://dx.doi.org/10.15557/pimr.2021.0058.

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Pfeiffer syndrome is a severe autosomal dominant condition that affects many systems of the human body. It is caused by mutations in the fibroblast growth factor receptors of the fibroblast growth factor genes. The phenotype of patients with Pfeiffer syndrome includes multiple limb and cranial abnormalities, and mental retardation. The infant reported here also had cloverleaf-shaped skull, broad thumbs and big toes, bilateral syndactyly, and hypertelorism. The patient was hospitalised in the Lviv Regional Clinical Hospital with multiple congenital malformations and severe neurological status.

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13

Tsukahara, Masato, Keiji Hagiwara, and Tadashi Kajii. "Pfeiffer syndrome or Saethre-Chotzen syndrome?" Japanese journal of human genetics 30, no. 2 (1985): 51–56. http://dx.doi.org/10.1007/bf01873577.

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14

Moore, Mark H., Michelle L. Lodge, and Bruce E. Clark. "Spinal Anomalies in Pfeiffer Syndrome." Cleft Palate-Craniofacial Journal 32, no. 3 (1995): 251–54. http://dx.doi.org/10.1597/1545-1569_1995_032_0251_saips_2.3.co_2.

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Review of the spinal radiographs of a consecutive series of 11 patients with Pfeiffer syndrome presenting to the Australian Craniofacial Unit was performed. The prevalence of cervical spine fusions was high, and the pattern of fusion complex. Isolated anomalies were evident at lower levels, including two cases of sacrococcygeal eversion. Spinal anomalies occur more frequently in the more severely involved cases of Pfeiffer syndrome emphasizing the generalized dysostotic nature of this condition.

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15

Kantaputra, Piranit N., Salita Angkurawaranon, Krit Khwanngern, et al. "Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome." Genes 13, no. 10 (2022): 1850. http://dx.doi.org/10.3390/genes13101850.

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Objective: To report the clinical and radiographic findings and molecular etiology of the first monozygotic twins affected with Pfeiffer syndrome. Methods: Clinical and radiographic examination and whole exome sequencing were performed on two monozygotic twins with Pfeiffer syndrome. Results: An acceptor splice site mutation in FGFR2 (c.940-2A>G) was detected in both twins. The father and both twins shared the same haplotype, indicating that the mutant allele was from their father’s chromosome who suffered severe upper airway obstruction and subsequent obstructive sleep apnea. Hypertrophy o

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16

Moore, Mark H., Stephen B. Cantrell, James A. Trott, and David J. David. "Pfeiffer Syndrome: A Clinical Review." Cleft Palate-Craniofacial Journal 32, no. 1 (1995): 62–70. http://dx.doi.org/10.1597/1545-1569(1995)032<0062:psacr>2.3.co;2.

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17

Moore, Mark H., Michelle L. Lodge, and Bruce E. Clark. "Spinal Anomalies in Pfeiffer Syndrome." Cleft Palate-Craniofacial Journal 32, no. 3 (1995): 251–54. http://dx.doi.org/10.1597/1545-1569(1995)032<0251:saips>2.3.co;2.

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18

Moore, Mark H., Stephen B. Cantrell, James A. Trott, and David J. David. "Pfeiffer Syndrome: A Clinical Review." Cleft Palate-Craniofacial Journal 32, no. 1 (1995): 62–70. http://dx.doi.org/10.1597/1545-1569_1995_032_0062_psacr_2.3.co_2.

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The combination of bicoronal craniosynostosis, broad thumbs and great toes, and partial variable soft tissue syndactyly of the hands and feet (i.e., Pfeiffer syndrome) classically followed a benign clinical course. A review of the clinical features of those Pfeiffer syndrome patients presenting to our unit confirm another subgroup in whom the craniofacial and associated manifestations are more extreme, with a significant risk of early demise. The early aggressive surgical management of craniostenosis, hydrocephalus, exorbitism, faciostenosis, and upper airway obstruction has provided the poten

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19

Park, Moon Sung, Jae Eon Yoo, Jaiho Chung, and Soo Han Yoon. "A Case of Pfeiffer Syndrome." Journal of Korean Medical Science 21, no. 2 (2006): 374. http://dx.doi.org/10.3346/jkms.2006.21.2.374.

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20

Wiwanitkit, Viroj. "FGFR Mutation in Pfeiffer Syndrome." Journal of Craniofacial Surgery 24, no. 4 (2013): 1503. http://dx.doi.org/10.1097/scs.0b013e3182902d37.

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21

Fearon, Jeffrey A., and Jennifer Rhodes. "Pfeiffer Syndrome: A Treatment Evaluation." Plastic and Reconstructive Surgery 123, no. 5 (2009): 1560–69. http://dx.doi.org/10.1097/prs.0b013e3181a2057e.

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22

OHASHI, H., H. NISHIMOTO, J. NISHIMURA, et al. "Anorectal anomaly in Pfeiffer syndrome." Clinical Dysmorphology 2, no. 1 (1993): 28???33. http://dx.doi.org/10.1097/00019605-199301000-00003.

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23

Amlang, C. J., A. Nouh, D. E. Anderson, and J. Biller. "Neurological complications in Pfeiffer syndrome." Journal of the Neurological Sciences 357 (October 2015): e193. http://dx.doi.org/10.1016/j.jns.2015.08.669.

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24

ANDERSON, P. J., C. M. HALL, P. J. SMITH, R. D. EVANS, R. D. HAYWARD, and B. M. JONES. "The Hands in Pfeiffer Syndrome." Journal of Hand Surgery 22, no. 4 (1997): 537–40. http://dx.doi.org/10.1016/s0266-7681(97)80285-9.

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Pfeiffer syndrome or acrocephalosyndactyly type 5 is a complex craniosynostosis syndrome characterized by craniosynostosis and broad thumbs and toes. Nineteen cases had their case notes and X-rays reviewed. A wide range of anomalies was seen with many bones within the hand affected on occasion by fusions. The most common anomalies were hypoplasia of the middle phalanx of the little or index fingers which occurred in the majority of cases. This finding may be of more use in establishing clinical diagnosis than the traditional thumb assessment.

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25

Stoler, Joan M., Heather Rosen, Urmen Desai, John B. Mulliken, John G. Meara, and Gary F. Rogers. "Cleft Palate in Pfeiffer Syndrome." Journal of Craniofacial Surgery 20, no. 5 (2009): 1375–77. http://dx.doi.org/10.1097/scs.0b013e3181ae42e4.

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26

Desai, Urmen, Heather Rosen, John B. Mulliken, Quinton Gopen, John G. Meara, and Gary F. Rogers. "Audiologic Findings in Pfeiffer Syndrome." Journal of Craniofacial Surgery 21, no. 5 (2010): 1411–18. http://dx.doi.org/10.1097/scs.0b013e3181ebcf58.

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27

Lajeunie, Elisabeth, Hong Wei Ma, Jacky Bonaventure, Arnold Munnich, Martine Le Merrer, and Dominique Renier. "FGFR2 mutations in Pfeiffer syndrome." Nature Genetics 9, no. 2 (1995): 108. http://dx.doi.org/10.1038/ng0295-108.

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28

Al-Adba, Buthaina, and Shirley M. L. Tse. "Radiographic Manifestations in Pfeiffer Syndrome." Arthritis & Rheumatology 67, no. 8 (2015): 2282. http://dx.doi.org/10.1002/art.39156.

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29

Hill, Lyndon M., and Patricia C. Grzybek. "Sonographic findings with pfeiffer syndrome." Prenatal Diagnosis 14, no. 1 (1994): 47–49. http://dx.doi.org/10.1002/pd.1970140108.

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30

Hockstein, Neil G., Donna McDonald-McGinn, Elaine Zackai, Scott Bartlett, Dale S. Huff, and Ian N. Jacobs. "Tracheal Anomalies in Pfeiffer Syndrome." Archives of Otolaryngology–Head & Neck Surgery 130, no. 11 (2004): 1298. http://dx.doi.org/10.1001/archotol.130.11.1298.

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31

Mahmud, Nurhamizah, Hasniah Abdul Latif, Faizah Mohd Zaki, and Bee See Goh. "Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity." BMJ Case Reports 14, no. 4 (2021): e236888. http://dx.doi.org/10.1136/bcr-2020-236888.

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Pfeiffer syndrome is a rare inherited craniofacial disorder. Upper airway obstruction is common among patients with Pfeiffer syndrome due to craniosynostosis. They may also present with lower respiratory tract obstruction due to a rare congenital airway malformation called tracheal cartilaginous sleeve (TCS). We report the case of a patient with Pfeiffer syndrome who presented with recurrent bronchopneumonia, discovered incidentally to have TCS via direct visualisation during tracheostomy. Relevant literature for this rare clinical condition are reviewed and discussed. Clinicians should be awa

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32

Oyamada, Maria Kiyoko, Haideé Salgado Alonso Ferreira, and Marcelo Hoff. "Pfeiffer syndrome type 2: case report." Sao Paulo Medical Journal 121, no. 4 (2003): 176–79. http://dx.doi.org/10.1590/s1516-31802003000400008.

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OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with cranios

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33

Coll, Guillaume, Eric Arnaud, Corinne Collet, Francis Brunelle, Christian Sainte-Rose, and Federico Di Rocco. "Skull Base Morphology in Fibroblast Growth Factor Receptor Type 2-Related Faciocraniosynostosis." Neurosurgery 76, no. 5 (2015): 571–83. http://dx.doi.org/10.1227/neu.0000000000000676.

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Abstract BACKGROUND: Children with faciocraniosynostosis present skull base abnormalities and may develop hydrocephalus or cerebellar tonsils ectopia (CTE). Several pathophysiological hypotheses were formulated in the past decades to explain these associations. However, no study has described in a genetically homogeneous population with confirmed fibroblast growth factor receptor type 2 (FGFR2) mutation eventual correlations between skull base abnormalities and hydrocephalus or CTE. OBJECTIVE: To illustrate these features in children &lt;2 years of age with a genetically confirmed FGFR2-re

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34

Witanowska, Joanna, Małgorzata Laskowska, and Małgorzata Zadurska. "Pfeiffer syndrome and Jackson-Weiss syndrome. Case report." Orthodontic Forum 16, no. 3 (2020): 266–71. http://dx.doi.org/10.5114/for.2020.100182.

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35

Setiawan, Deni, Audy Sarah Putrini Adibrata, Puspita P. Sari, Atta Kuntara, and Gery P. Yogaswara. "Imaging of Pfeiffer Syndrome: A Case Report." Open Access Macedonian Journal of Medical Sciences 10, no. C (2022): 148–51. http://dx.doi.org/10.3889/oamjms.2022.9424.

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BACKGROUND: Pfeiffer syndrome (PS) is a rare case in the Asian population, and only a few have been reported in Indonesia. This case report aims to spotlight the identification of PS with its correlated radiological imaging and distinguish it from other syndromes. CASE REPORTS: The authors report a case of a 5-year-old girl with PS, manifested by brachyturricephally, broad thumbs and big toes, and medially deviated big toes. The patient also had proptosis, midface hypoplasia, and bilateral Syndactyly of the fingers and toes. This report confirms the thorough examination procedures and indexes

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36

Wilson, Alexander T., Catherine A. de Planque, Sumin S. Yang, et al. "Cortical Thickness in Crouzon–Pfeiffer Syndrome." Plastic and Reconstructive Surgery - Global Open 8, no. 10 (2020): e3204. http://dx.doi.org/10.1097/gox.0000000000003204.

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37

Jones, Matthew R., Luis C. F. de Sa, and William V. Good. "Atypical Iris Colobomata and Pfeiffer Syndrome." Journal of Pediatric Ophthalmology & Strabismus 30, no. 4 (1993): 266–67. http://dx.doi.org/10.3928/0191-3913-19930701-12.

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38

Pfeifer, Cory M. "Kleeblattschädel in Pfeiffer syndrome type II." Radiology Case Reports 15, no. 5 (2020): 474–78. http://dx.doi.org/10.1016/j.radcr.2020.01.034.

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39

Medina, Margarita, Elena Cortés, Idoya Eguiluz, and Miguel A. Barber. "Three-dimensional features of Pfeiffer syndrome." International Journal of Gynecology & Obstetrics 105, no. 3 (2009): 266–67. http://dx.doi.org/10.1016/j.ijgo.2009.01.011.

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40

Harb, Elise, and Barry Kran. "Pfeiffer syndrome: Systemic and ocular implications." Optometry - Journal of the American Optometric Association 76, no. 7 (2005): 352–62. http://dx.doi.org/10.1016/j.optm.2005.05.002.

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41

Hall, Judith G. "Mild expression of the Pfeiffer syndrome." Clinical Genetics 34, no. 2 (2008): 144. http://dx.doi.org/10.1111/j.1399-0004.1988.tb02853.x.

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42

Rasmussen, Sonja A., and Jaime L. Frias. "Mild expression of the Pfeiffer syndrome." Clinical Genetics 33, no. 1 (2008): 5–10. http://dx.doi.org/10.1111/j.1399-0004.1988.tb04258.x.

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43

Stone, Pamela, Cynthia L. Trevenen, Ian Mitchell, and Noreen Rudd. "Congenital tracheal stenosis in Pfeiffer syndrome." Clinical Genetics 38, no. 2 (2008): 145–48. http://dx.doi.org/10.1111/j.1399-0004.1990.tb03563.x.

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44

Jönsson, Saga, Daniel Nilsson, Peter Tarnow, et al. "Prevalence and treatment outcomes of hydrocephalus among children with craniofacial syndromes." Journal of Plastic Surgery and Hand Surgery 60 (February 20, 2025): 40–45. https://doi.org/10.2340/jphs.v60.42957.

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Introduction: Hydrocephalus is more common in patients with craniofacial syndromes (CS) relative to non-syndromic craniosynostosis, and the optimal management is challenging. This study examined the prevalence and treatment outcomes of hydrocephalus among children with CS. Materials and methods: We performed a retrospective review of medical records for all children with established CS and registered in the Gothenburg Craniofacial Registry between 1975 and 2022. This review included analyses of data regarding patient demographics, radiological imaging, hydrocephalus treatment modalities, and s

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45

Vallino-Napoli, Linda D. "Audiologic and Otologic Characteristics of Pfeiffer Syndrome." Cleft Palate-Craniofacial Journal 33, no. 6 (1996): 524–29. http://dx.doi.org/10.1597/1545-1569(1996)033<0524:aaocop>2.3.co;2.

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46

Vallino-Napoli, Linda D. "Audiologic and Otologic Characteristics of Pfeiffer Syndrome." Cleft Palate-Craniofacial Journal 33, no. 6 (1996): 524–29. http://dx.doi.org/10.1597/1545-1569_1996_033_0524_aaocop_2.3.co_2.

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Objective To examine the prevalence and type of hearing loss and otopathology in patients with Pfeiffer syndrome. Design Retrospective and prospective study design. Setting A pediatric tertiary care hospital. Subjects Nine patients-ranging in age from 2 to 12 years. Method Hearing levels and middle ear function were assessed using standard procedures. Otoscopy was also conducted. Computerized tomography (CT) scans of the temporal bone were obtained to study outer, middle, and inner ear anatomy. Results Hearing loss was present in eight of the nine patients. The degree of loss varied but was mo

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47

Nagase, Takashi, Miki Nagase, Shigehisa Hirose, and Kitaro Ohmori. "Japanese Sisters With Pfeiffer Syndrome and Achondroplasia." Journal of Craniofacial Surgery 9, no. 5 (1998): 477–80. http://dx.doi.org/10.1097/00001665-199809000-00019.

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48

Chokdeemboon, Chayanin, Charan Mahatumarat, Nond Rojvachiranonda, Siraprapa Tongkobpetch, Kanya Suphapeetiporn, and Vorasuk Shotelersuk. "FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome." Journal of Craniofacial Surgery 24, no. 1 (2013): 150–52. http://dx.doi.org/10.1097/scs.0b013e3182646454.

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49

Oh, Susan, Lucia Patino, and Ida Chung. "MANAGEMENT OF OCULAR SEQUELAE IN PFEIFFER SYNDROME." Optometry and Vision Science 79, Supplement (2002): 92. http://dx.doi.org/10.1097/00006324-200212001-00175.

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50

Cheng, Shirley Sze Wing, Ivan Fai-Man Lo, and Ho-Ming Luk. "Chinese patients with p.Ala172Phe-related Pfeiffer syndrome." Clinical Dysmorphology 27, no. 3 (2018): 84–87. http://dx.doi.org/10.1097/mcd.0000000000000225.

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