A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment.
Ahmad F, Mahmood A, Almazni IA, Shakoori AM, Alhakami F, Alam Q, Ismail M, Umair M.
Ahmad F, et al.
Genes Genomics. 2025 Apr;47(4):417-423. doi: 10.1007/s13258-024-01590-y. Epub 2024 Oct 24.
Genes Genomics. 2025.
PMID: 39446282
METHODS: Here, we present a consanguineous family suffering from autosomal recessive non-syndromic profound hearing impairment (HI). We employed state of the art Whole exome sequencing (WES), Sanger sequencing followed by routine bioinformatics filtration steps and homolog …
METHODS: Here, we present a consanguineous family suffering from autosomal recessive non-syndromic profound hearing impairment (HI). We empl …