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

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

Abstract 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...

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Bibliographic Details
Main Authors: Fereshteh Jamshidi, Ebrahim Shokouhian, Marzieh Mohseni, Kimia Kahrizi, Hossein Najmabadi, Mojgan Babanejad
Format: Article
Language:English
Published: Wiley 2023-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
FGF3
Iran
LAMM syndrome
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.2168

Internet

https://doi.org/10.1002/mgg3.2168

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