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

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.Gln48Pr...

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Main Authors: Raghad N. Shihab, Rusul Thabit Hamid, Mostafa Neissi, Javad Mohammadi‐Asl, Motahareh Sheikh‐Hosseini, Elaheh Nekouei
Format: Article
Language:English
Published: Wiley 2025-09-01
Series:Clinical Case Reports
Subjects:
exome‐sequencing
oculocutaneous albinism
TYR gene
variant
Online Access:https://doi.org/10.1002/ccr3.70818
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https://doi.org/10.1002/ccr3.70818

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