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Article

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.

European journal of human genetics : EJHG - 1 Oct 2024

Kohli Sudha, Saxena Renu, Puri Ratna Dua, Bijarnia Mahay Sunita, Pal Swasti, Dubey Sudhisha, Arora Veronica, Verma Ishwar

Abstract excerpt

Oculocutaneous albinism is an inherited disorder of melanin biosynthesis, characterized by absent or reduced pigmentation of the skin, hair, and eyes. Molecular alterations of genes that cause non-syndromic albinism in Asian Indians are poorly characterized. This information would be useful for developing therapies for this disorder. We analyzed 164 persons with non-syndromic albinism, belonging to unrelated...

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Source

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Identifiers

PMID: 38030918
DOI: 10.1038/s41431-023-01496-5
PMCID: PMC11500089

Genes

TYR
GPR143
SLC45A2
TYRP1
OCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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