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Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies

Autosomal recessive non‐syndromic hearing loss (ARNSHL) is the most common inherited sensory impairment. It is particularly frequent in North African populations who have a high rate of consanguineous marriage. The c.242G>A homozygous variant in LRTOMT gene was previously established as pathogeni...

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Detalles Bibliográficos
Autores principales: Mosrati, Mohamed Ali, Fadhlaoui‐Zid, Karima, Benammar‐Elgaaied, Amel, Gibriel, Abdullah Ahmed, Ben Said, Mariem, Masmoudi, Saber
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580077/
https://www.ncbi.nlm.nih.gov/pubmed/34514748
http://dx.doi.org/10.1002/mgg3.1810