Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review

BACKGROUND: To date, over 400 syndromes with hearing impairment have been identified which altogether constitute almost 30% of hereditary hearing loss (HL) cases around the globe. Manifested as complete or partial labyrinthine aplasia (severe malformations of the inner ear structure), type I microti...

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Detalles Bibliográficos
Autores principales: Jamshidi, Fereshteh, Shokouhian, Ebrahim, Mohseni, Marzieh, Kahrizi, Kimia, Najmabadi, Hossein, Babanejad, Mojgan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178790/
https://www.ncbi.nlm.nih.gov/pubmed/36934406
http://dx.doi.org/10.1002/mgg3.2168

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178790/
https://www.ncbi.nlm.nih.gov/pubmed/36934406
http://dx.doi.org/10.1002/mgg3.2168

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