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Article

Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins.

European journal of medical genetics - 1 Jul 2021

Kaya Tugba Barsan, Aydemir Ozge, Ceylaner Serdar, Ceylaner Gulay, Tekin Ayse Neslihan

Abstract excerpt

Congenital diaphragmatic hernia (CDH) is a serious life-threatening birth defect characterized by abnormal development in the muscular or tendinous portion of the diaphragm during embryogenesis. Despite its high incidence, the etiology of CDH hasn't been fully understood. Genetic factors are important in pathogenesis; however, few single genes have been definitively implicated in human CDH. SLIT1, SLIT2, and...

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Share to Hernias, Diaphragmatic, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33933663
DOI: 10.1016/j.ejmg.2021.104215

Provenance

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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