Article
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.
American journal of medical genetics. Part A - 1 Jan 2024
Drackley Andy, De Simone Lenika, Kuntz Nancy, Rahmani Safa, Ing Alexander, Rao Vamshi K, Rathbun Pamela, Yap Kai Lee
Abstract excerpt
Pathogenic heterozygous variants in DHX16 have been recently identified in association with a variety of clinical features, including neuromuscular disease, sensorineural hearing loss, ocular anomalies, and other phenotypes. All DHX16 disease-causing variants previously reported in affected individuals are missense in nature, nearly all of which were found to be de novo. Here we report on a patient with...
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