Associated Papers
Severe Macular Atrophy in an Infant With Neuromuscular Oculoauditory Syndrome.
Yun JS et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 2025
DHX16-Associated Neuromuscular Oculoauditory Syndrome: A Novel Case.
Clay S et al.
American Journal of Medical Genetics. Part A, 2025
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
40571344 (PubMed )
Supplement: bjo-109-8-s002.xlsx › P_or_LP_variants_
Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies.
Kalampokini S et al.
International Journal of Molecular Sciences, 2025
Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report.
Wang L et al.
Frontiers in Genetics, 2025
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Hautakangas MR et al.
Clinical Genetics, 2023
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