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Article

Holoprosencephaly.

Orphanet journal of rare diseases - 2 Feb 2007

Dubourg Christèle, Bendavid Claude, Pasquier Laurent, Henry Catherine, Odent Sylvie, David Véronique

Abstract excerpt

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. It is estimated to occur in 1/16,000 live births and 1/250 conceptuses. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. Another milder subtype of HPE called...

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Source

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Identifiers

PMID: 17274816
DOI: 10.1186/1750-1172-2-8
PMCID: PMC1802747

Genes

SHH
SIX3
ZIC2
GLI2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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