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Article

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

European journal of human genetics : EJHG - 1 Mar 2018

Kammoun Molka, Brady Paul, De Catte Luc, Deprest Jan, Devriendt Koenraad, Vermeesch Joris Robert

Abstract excerpt

Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a...

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Source

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Identifiers

PMID: 29358614
DOI: 10.1038/s41431-017-0032-z
PMCID: PMC5839023

Genes

NHS

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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