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Article

PMEL is mutated in oculocutaneous albinism.

Human genetics - 1 Jan 2023

AlAbdi Lama, Alshammari Muneera, Helaby Rana, Khan Arif O, Alkuraya Fowzan S

Abstract excerpt

Oculocutaneous albinism (OCA) is a group of Mendelian disorders characterized by hypopigmentation of skin, hair and pigmented ocular structures. While much of the genetic heterogeneity of OCA has been resolved, many patients still lack a molecular diagnosis following exome sequencing. Here, we report a consanguineous family in which the index patient presented with OCA and Hirschsprung disease but tested negative...

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Identifiers

PMID: 36166100
DOI: 10.1007/s00439-022-02489-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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