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Article

Molecular genetic characterization of Congolese patients with oculocutaneous albinism.

European journal of medical genetics - 1 Nov 2022

Laetitia Mavinga Mpola, Veronique Kakiese, Mamy Ngole Zita, Cathy Songo Mbodo, Aimé Lumaka, Race Valerie, Prosper Lukusa Tshilobo, Devriendt Koenraad

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive genetic disorder associated with reduced or absent pigmentation in the skin, hair and eyes. OCA type 2 (OCA2) is the most common type in Sub-Saharan Africa, related to a recurrent 2.7 kb intragenic deletion. Genomic data from Congolese patients are lacking. We aimed to describe genetic causes of OCA2 in a cohort of Congolese persons with OCA, and...

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Identifiers

PMID: 36116698
DOI: 10.1016/j.ejmg.2022.104611

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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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