Cargando…
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next‐generation sequencing
BACKGROUND: The extremely high genetic heterogeneity of hearing loss due to diverse group of genes encoding proteins required for development, function, and maintenance of the complex auditory system makes the genetic diagnosis of this disease challenging. Up to now, 121 different genes have been id...
Autores principales: | Bitarafan, Fatemeh, Seyedena, Seyed Yousef, Mahmoudi, Mahdi, Garshasbi, Masoud |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7755797/ https://www.ncbi.nlm.nih.gov/pubmed/32864763 http://dx.doi.org/10.1002/jcla.23544 |
Ejemplares similares
-
Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
por: Bitarafan, Fatemeh, et al.
Publicado: (2023) -
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
por: Zardadi, Safoura, et al.
Publicado: (2020) -
Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family
por: Bitarafan, Fatemeh, et al.
Publicado: (2021) -
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family
por: Sepahvand, Afrooz, et al.
Publicado: (2020) -
Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease
por: Bitarafan, Fatemeh, et al.
Publicado: (2019)