Relevant bibliographies by topics / Cardiofaciocutaneous syndrome

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  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters

Academic literature on the topic 'Cardiofaciocutaneous syndrome'

Author: Grafiati
Published: 4 June 2021
Last updated: 12 February 2022

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Journal articles on the topic "Cardiofaciocutaneous syndrome"

1

Modi, Ranjan, Pournima Patil, VeerappaA Kothiwale, and Mahesh Kamate. "Cardiofaciocutaneous syndrome." Journal of the Scientific Society 41, no. 3 (2014): 195. http://dx.doi.org/10.4103/0974-5009.141231.

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Thergaonkar, R. W., and Vivek Bhat. "Cardiofaciocutaneous syndrome." Medical Journal Armed Forces India 69, no. 2 (2013): 175–77. http://dx.doi.org/10.1016/j.mjafi.2012.08.001.

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3

Mathews, Carol A. "Cardiofaciocutaneous Syndrome." Archives of Dermatology 129, no. 1 (1993): 46. http://dx.doi.org/10.1001/archderm.1993.01680220058015.

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4

ADES, L. C., D. O. SILLENCE, and M. ROGERS. "Cardiofaciocutaneous syndrome." Clinical Dysmorphology 1, no. 3 (1992): 145???150. http://dx.doi.org/10.1097/00019605-199207000-00004.

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5

Roberts, A., J. Allanson, S. K. Jadico, et al. "The cardiofaciocutaneous syndrome." Journal of Medical Genetics 43, no. 11 (2006): 833–42. http://dx.doi.org/10.1136/jmg.2006.042796.

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6

Schepis, Carmelo, Donatella Greco, and Corrado Romano. "Cardiofaciocutaneous (CFC) syndrome." Australasian Journal of Dermatology 40, no. 2 (1999): 111–13. http://dx.doi.org/10.1046/j.1440-0960.1999.00333.x.

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7

Umnov, V. V., N. V. Nikitina, A. M. Khodorovskaya, and O. V. Barlova. "Cardiofaciocutaneus syndrome: literature review and case report." Neuromuscular Diseases 8, no. 4 (2019): 49–53. http://dx.doi.org/10.17650/2222-8721-2018-8-4-49-53.

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Abstract:
The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.
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8

Pavithra, S., H. Mallya, and GS Pai. "Cardiofaciocutaneous syndrome: A rare entity." Indian Journal of Dermatology 57, no. 4 (2012): 299. http://dx.doi.org/10.4103/0019-5154.97677.

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9

DeRoos, Steven T., Monique M. Ryan, and Robert A. Ouvrier. "Peripheral Neuropathy in Cardiofaciocutaneous Syndrome." Pediatric Neurology 36, no. 4 (2007): 250–52. http://dx.doi.org/10.1016/j.pediatrneurol.2006.12.004.

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10

Bessis, D., F. Morice‐Picard, E. Bourrat, et al. "Dermatological manifestations in cardiofaciocutaneous syndrome." British Journal of Dermatology 180, no. 1 (2019): e17-e17. http://dx.doi.org/10.1111/bjd.17371.

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Dissertations / Theses on the topic "Cardiofaciocutaneous syndrome"

1

Bessis, Didier. "Étude prospective des manifestations dermatologiques des RASopathies." Thesis, Montpellier, 2018. http://www.theses.fr/2018MONTT089.

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Abstract:
Les RASopathies avec phénotype Noonan associent le syndrome de Noonan (SN), le syndrome cardio-facio-cutané (SCFC) et le syndrome de Costello (SC). Leurs manifestations dermatologiques restent peu étudiées.Objectifs Colliger les différentes manifestations dermatologiques des SN, SCFC et SC afin d’établir leur nature et leur prévalence, et définir d’éventuelles corrélations phénotype/génotype au sein de chacune de ces affections.Méthodes Les patients atteints d’un SN, SCFC et SC confirmé sur le plan moléculaire par la présence d’une mutation germinale pathogène étaient inclus dans une étude men
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Book chapters on the topic "Cardiofaciocutaneous syndrome"

1

"The Clinical Phenotype of Cardiofaciocutaneous Syndrome (CFC)." In Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling. KARGER, 2008. http://dx.doi.org/10.1159/000164840.

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You might also be interested in the extended bibliographies on the topic 'Cardiofaciocutaneous syndrome' for particular source types:
Journal articles
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