Cargando…
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...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Dermatological Association; The Korean Society for Investigative Dermatology
2022
|
| Materias: | |
| 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 |