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Article

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.

European journal of medical genetics - 1 Jan 2000

Petit Florence, Andrieux Joris, Holder-Espinasse Muriel, Bouquillon Sonia, Pennaforte Thomas, Storme Laurent, Manouvrier-Hanu Sylvie

Abstract excerpt

Congenital diaphragmatic hernia (CDH) has an incidence of around 1/3000 births. Chromosomal anomalies constitute an important etiology for non-isolated CDH, and may participate to the identification of candidate genes for diaphragm development. We report on a microduplication identified by array-CGH (comparative genomic hybridization) including five contiguous genes (OPHN1, YIPF6, STARD8, EFNB1 and PJA1) and...

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Share to Chromosome Banding
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Gene Dosage

Share to Hernia, Diaphragmatic

Share to Hernias, Diaphragmatic, Congenital

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Source

Identifiers

PMID: 21782985
DOI: 10.1016/j.ejmg.2011.06.011

Genes

EFNB1
OPHN1
PJA1
STARD8
YIPF6

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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