Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)

We identified a homozygous missense mutation (c.196G → T) in fibroblast growth factor 3 (FGF3) in 21 affected individuals from a large extended consanguineous Saudi family, phenotypically characterized by autosomal recessive syndromic congenital sensorineural deafness, microtia and microdontia. All...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Alsmadi, Osama, Meyer, Brian F, Alkuraya, Fowzan, Wakil, Salma, Alkayal, Fadi, Al-Saud, Haya, Ramzan, Khushnooda, Al-Sayed, MoeenAldeen
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2009
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2985964/
https://ncbi.nlm.nih.gov/pubmed/18701883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.141
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky