Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant

ABSTRACT Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, TYR (NM_000372.5):c.143A>C (p.Gln48Pro),...

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Auteurs principaux:	Raghad N. Shihab, Rusul Thabit Hamid, Mostafa Neissi, Javad Mohammadi‐Asl, Motahareh Sheikh‐Hosseini, Elaheh Nekouei
Format:	Artigo
Langue:	Inglês
Publié:	Wiley 2025-09-01
Collection:	Clinical Case Reports
Sujets:	exome‐sequencing oculocutaneous albinism TYR gene variant
Accès en ligne:	https://doi.org/10.1002/ccr3.70818
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