Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

doi:10.1002/ajmg.a.35665

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Article

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

American journal of medical genetics. Part A - 1 Dec 2012

Longoni Mauro, Lage Kasper, Russell Meaghan K, Loscertales Maria, Abdul-Rahman Omar A, Baynam Gareth, Bleyl Steven B, Brady Paul D, Breckpot Jeroen, Chen Chih P, Devriendt Koenraad, Gillessen-Kaesbach Gabriele, Grix Arthur W, Rope Alan F, Shimokawa Osamu, Strauss Bernarda, Wieczorek Dagmar, Zackai Elaine H, Coletti Caroline M, Maalouf Faouzi I, Noonan Kristin M, Park Ji H, Tracy Adam A, Lee Charles, Donahoe Patricia K, Pober Barbara R

Abstract excerpt

Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high-resolution arrays in patients who carry a loss (n = 18) or a gain (n = 1) of sub-band 8p23.1. We confirm a region involved in both diaphragmatic and heart malformations. Results from a novel CNVConnect algorithm, prioritizing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23165946
DOI: 10.1002/ajmg.a.35665
PMCID: PMC3761361

Genes

GATA4
NEIL2
SOX7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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