Genetic & Genomic MedicineHuman GeneticsPeer-reviewed
PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss
Shelby E. Redfield, Pedro De‐la‐Torre, Mina Zamani…·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.