Cargando…
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families
BACKGROUND: Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50–60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and ef...
Autores principales: | Zhou, Yingjie, Tariq, Muhammad, He, Sijie, Abdullah, Uzma, Zhang, Jianguo, Baig, Shahid Mahmood |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7368710/ https://www.ncbi.nlm.nih.gov/pubmed/32682410 http://dx.doi.org/10.1186/s12881-020-01087-x |
Ejemplares similares
-
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability
por: Asif, Maria, et al.
Publicado: (2022) -
Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families
por: Makhdoom, Ehtisham ul Haq, et al.
Publicado: (2022) -
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
por: Saadi, Saadia Maryam, et al.
Publicado: (2023) -
Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families
por: Tehreem, Raeesa, et al.
Publicado: (2022) -
Whole Exome Sequencing Reveals Clustering of Variants of Known Vitiligo Genes in Multiplex Consanguineous Pakistani Families
por: Ishaq, Rafaqat, et al.
Publicado: (2023)