The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome

Keratitis-ichthyosis-deafness (KID) syndrome has genetic heterogeneity, and the clinical manifestations of some patients may overlap with Clouston syndrome. A 34-year-old female patient came to our department with a complain of “sparse hair, rough skin, photophobia and deafness for more than 30 year...

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Detalles Bibliográficos
Autores principales: Xu, Yanjiang, Wang, Minhua, Huang, Ling, Hu, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561302/
https://www.ncbi.nlm.nih.gov/pubmed/36198631
http://dx.doi.org/10.5021/ad.20.278

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