Cargando…
Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort
BACKGROUND: Hearing loss or hearing impairment is a clinically and genetically heterogeneous disorder. More than 117 genes were discovered to date in hereditary, nonsyndromic hearing loss (NSHL). Identifying novel gene variants and their frequency in specific populations is valuable for public healt...
Autores principales: | Khan, Amjad, Han, Shirui, Wang, Rongrong, Ansar, Muhammad, Ahmad, Wasim, Zhang, Xue |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732339/ https://www.ncbi.nlm.nih.gov/pubmed/31389194 http://dx.doi.org/10.1002/mgg3.917 |
Ejemplares similares
-
A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families
por: Lee, Kwanghyuk, et al.
Publicado: (2011) -
A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family
por: Khan, Amjad, et al.
Publicado: (2017) -
A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family
por: Khan, Amjad, et al.
Publicado: (2020) -
MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance
por: Thongpradit, Supranee, et al.
Publicado: (2020) -
Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families
por: Sun, Liwei, et al.
Publicado: (2020)