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....

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Wonkam, Ambroise, Noubiap, Jean Jacques N, Bosch, Jason, Dandara, Collet, Toure, Geneviève Bengono
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2013
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3750395/
https://ncbi.nlm.nih.gov/pubmed/23924173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-81
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