Article

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in <i>TYR</i>

2025-02-21

Abstract excerpt

Oculocutaneous albinism (OCA) is genetically and clinically heterogeneous recessive disorders with at least 23 associated genes. Isolated OCA is characterized by hypopigmentation in the skin, hair, and eyes combined with ocular abnormalities. Hermansky Pudlak syndrome (HPS) and Chediak-Higaski syndrome are syndromic forms of OCA, distinguished by immunological and hematological symptoms in addition to hypopigmenta...

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Literature Corpus work: ca986569-84cd-532d-8fa3-881c679d4fda
DOI: 10.1101/2025.02.20.25322192

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