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Article

Mutations in holoprosencephaly.

Human mutation - 1 Jan 2000

Wallis D, Muenke M

Abstract excerpt

Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. In holoprosencephaly the cerebral hemispheres of the brain fail to separate into distinct left and right hemispheres. This malformation is due to the improper specification and formation of the forebrain during early development. When one considers the great number and kinds of genetic interactions that must...

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Source

Identifiers

PMID: 10923031
DOI: 10.1002/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0

Genes

SHH
SIX3
ZIC2

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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