SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) and DFNB4 which is deafness with enlarged vestibular aqueduct (EVA). However, mutated SLC26A4 is not conclusive for having either...

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Detalles Bibliográficos
Autores principales: Tawalbeh, Mohamed, Aburizeg, Dunia, Abu Alragheb, Bayan O., Alaqrabawi, Wala Sami, Dardas, Zain, Srour, Luma, Altarayra, Baraah Hatem, Zayed, Ayman A., El Omari, Zaid, Azab, Bilal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778369/
https://www.ncbi.nlm.nih.gov/pubmed/36553459
http://dx.doi.org/10.3390/genes13122192

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778369/
https://www.ncbi.nlm.nih.gov/pubmed/36553459
http://dx.doi.org/10.3390/genes13122192

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