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Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.

Molecular genetics & genomic medicine - 1 Jan 2024

Seymour Heather, Feben Candice, Nevondwe Patracia, Kerr Robyn, Spencer Careni, Mudau Maria, Honey Engela, Lombard Zane, Krause Amanda, Carstens Nadia

Abstract excerpt

BACKGROUND: Cornelia de Lange Syndrome (CdLS) presents with a variable multi-systemic phenotype and pathogenic variants have been identified in five main genes. This condition has been understudied in African populations with little phenotypic and molecular information available. METHODS AND RESULTS: We present a cohort of 14 patients with clinical features suggestive of CdLS. Clinical phenotyping was carried out...

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Identifiers

PMID: 38284454
DOI: 10.1002/mgg3.2342
PMCID: PMC10785556

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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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