PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss
Shelby E. Redfield, Pedro De‐la‐Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A. Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A. Indzhykulian, , Barbara Vona
This study identifies PKHD1L1 as a cause of autosomal recessive nonsyndromic hearing loss through exome sequencing and functional analysis in human families and animal models.
Human Genetics · Mar 1, 2024Peer-reviewedGenetic & Genomic Medicine