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Article

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

American journal of medical genetics. Part A - 1 Sept 2018

Lumaka Aimé, Race Valerie, Peeters Hilde, Corveleyn Anniek, Coban-Akdemir Zeynep, Jhangiani Shalini N, Song Xiaofei, Mubungu Gerrye, Posey Jennifer, Lupski James R, Vermeesch Joris R, Lukusa Prosper, Devriendt Koenraad

Abstract excerpt

Pathogenic variants account for 4 to 41% of patients with intellectual disability (ID) or developmental delay (DD). In Sub-Saharan Africa, the prevalence of ID is thought to be higher, but data in Central Africa are limited to some case reports. In addition, clinical descriptions of some syndromes are not available for this population. This study aimed at providing an estimate for the fraction of ID/DD for which...

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Identifiers

PMID: 30088852
DOI: 10.1002/ajmg.a.40382
PMCID: PMC6325645

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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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