Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss

We report the underlying genetic causes of prelingual hearing loss (HL) segregating in eight large consanguineous families, ascertained from the Punjab province of Pakistan. Exome sequencing followed by segregation analysis revealed seven potentially pathogenic variants, including four novel alleles...

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Detalles Bibliográficos
Autores principales: Zafar, Saba, Shahzad, Mohsin, Ishaq, Rafaqat, Yousaf, Ayesha, Shaikh, Rehan S., Akram, Javed, Ahmed, Zubair M., Riazuddin, Saima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564084/
https://www.ncbi.nlm.nih.gov/pubmed/32842620
http://dx.doi.org/10.3390/genes11090978

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