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Article

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Prenatal diagnosis - 1 Nov 2010

Harbuz Radu, Lespinasse James, Boulet Stéphanie, Francannet Christine, Creveaux Isabelle, Benkhelifa Mariem, Jouk Pierre-Simon, Lunardi Joël, Ray Pierre F

Abstract excerpt

OBJECTIVE: Molecular diagnosis and prenatal care of two pregnant women at risk of transmitting immunodysregulation, polyendocrinopathy, enteropathy X-linked (IPEX) syndrome. METHODS: FOXP3 coding sequence and exon boundaries were analyzed in the two consultants and family members. Non-invasive sex determination and specific prenatal diagnosis was realized. RESULTS: Following sequence analysis a new FOXP3 mutation...

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Source

Identifiers

PMID: 20842625
DOI: 10.1002/pd.2613

Genes

FOXP3

Provenance

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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Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.PMID 20842625Read ↗

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