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Article

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

American journal of medical genetics. Part A - 1 Nov 2017

Farrell Sandra A, Sodhi Sandi, Marshall Christian R, Guerin Andrea, Slavotinek Anne, Paton Tara, Chong Karen, Sirkin Wilma L, Scherer Stephen W, Bérubé-Simard Félix-Antoine, Pilon Nicolas

Abstract excerpt

Isolated congenital diaphragmatic hernia is often a sporadic event with a low recurrence risk. However, underlying genetic etiologies, such as chromosome anomalies or single gene disorders, are identified in a small number of individuals. We describe two fetuses with a unique pattern of multiple congenital anomalies, including diaphragmatic hernia, short bowel and asplenia, born to first-cousin parents. Whole...

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Share to Abnormalities, Multiple
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Hernias, Diaphragmatic, Congenital

Share to Homeodomain Proteins

Share to Sequence Analysis, DNA

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Source

Identifiers

PMID: 28898547
DOI: 10.1002/ajmg.a.38354

Genes

HLX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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