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Article

A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.

European journal of medical genetics - 1 Mar 2014

Lumaka Aimé, Mubungu Gerrye, Mukaba Papino, Mutantu Pierre, Luyeye Gertrude, Corveleyn Anniek, Tady Bruno-Paul, Lukusa Tshilobo Prosper, Devriendt Koenraad

Abstract excerpt

Apert syndrome (OMIM 101200) is a rare genetic condition characterized by craniosynostosis and syndactyly of hands and feet with clinical variability. Two single nucleotides mutations in the linker region between the immunoglobulin-like domains II and IIIa of the ectodomainin the Fibroblast Growth Factor Receptor 2 gene (FGFR2, OMIM 176943) are responsible of the vast majority of cases: c.755C > G; p.Ser252Trp...

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Source

Identifiers

PMID: 24486773
DOI: 10.1016/j.ejmg.2014.01.004

Genes

FGFR2

Variants

Provenance

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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A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.PMID 24486773Read ↗

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