Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16
Andy Drackley,
Lenika De Simone,
Nancy Kuntz
et al.
Abstract: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 neuromuscular disease, hearing loss, retinal degeneration, and previously unreported phenotypic features inc… Show more
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