Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome

BACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. KID appears to be genetically heterogeneous and most cases are caused by GJB2 mutations....

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Detalles Bibliográficos
Autores principales: Wonkam, Ambroise, Noubiap, Jean Jacques N, Bosch, Jason, Dandara, Collet, Toure, Geneviève Bengono
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750395/
https://www.ncbi.nlm.nih.gov/pubmed/23924173
http://dx.doi.org/10.1186/1471-2350-14-81

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750395/
https://www.ncbi.nlm.nih.gov/pubmed/23924173
http://dx.doi.org/10.1186/1471-2350-14-81

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