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Article

Modeling the complex etiology of holoprosencephaly in mice.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2018

Hong Mingi, Krauss Robert S

Abstract excerpt

Holoprosencephaly (HPE) is a common developmental defect caused by failure to define the midline of the forebrain and/or midface. HPE is associated with heterozygous mutations in Nodal and Sonic hedgehog (SHH) pathway components, but clinical presentation is highly variable, and many mutation carriers are unaffected. It is therefore thought that such mutations interact with more common modifiers, genetic and/or...

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Source

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Identifiers

PMID: 29749693
DOI: 10.1002/ajmg.c.31611
PMCID: PMC6125217

Genes

SHH

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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