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Article

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

Prenatal diagnosis - 1 Oct 2009

Rosenmann Ada, Bejarano-Achache Idit, Eli Dalia, Maftsir Genia, Mizrahi-Meissonnier Liliana, Blumenfeld Anat

Abstract excerpt

OBJECTIVES: To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families. METHODS: Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered...

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Source

Identifiers

PMID: 19626598
DOI: 10.1002/pd.2317

Genes

TYR

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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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