Article
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS).
Journal of human genetics - 1 Jul 2020
Mohseni Marzieh, Akbari Mojdeh, Booth Kevin T, Babanejad Mojgan, Azaiez Hela, Ardalani Fariba, Arzhangi Sanaz, Jalalvand Khadijeh, Nikzat Nooshin, Ghodratpour Fatemeh, Jamali Payman, Adeli Omid Ali, Habibi Haleh, Kahrizi Kimia, Najmabadi Hossein
Abstract excerpt
Mutations in the CDC14A (Cell Division-Cycle 14A) gene, which encodes a conserved dual-specificity protein tyrosine phosphatase, have been identified as a cause of autosomal recessive non-syndromic hearing loss (DFNB32) and hearing impairment infertility male syndrome (HIIMS). We used next-generation sequencing to screen six deaf probands from six families segregating sensorineural moderate-to-profound hearing...
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