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Article

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.

American journal of human genetics - 6 Jul 2023

Loftus Stacie K, Gillis Meredith F, Lundh Linnea, Baxter Laura L, Wedel Julia C, Watkins-Chow Dawn E, Donovan Frank X, Sergeev Yuri V, Oetting William S, Pavan William J, Adams David R

Abstract excerpt

Oculocutaneous albinism (OCA) is a rare disorder of pigment production. Affected individuals have variably decreased global pigmentation and visual-developmental changes that lead to low vision. OCA is notable for significant missing heritability, particularly among individuals with residual pigmentation. Tyrosinase (TYR) is the rate-limiting enzyme in melanin pigment biosynthesis and mutations that decrease...

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Identifiers

PMID: 37327787
DOI: 10.1016/j.ajhg.2023.05.012
PMCID: PMC10357474

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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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Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.PMID 37327787Read ↗

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