Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.
Liaqat K, Bharadwaj T, Shah K, Nasir A, Acharya A, Khan S, Ullah I, Schrauwen I, Ahmad W, Leal SM. Clin Genet. 2023 Oct; 104(4):499-501. Epub 2023 Jun 13.