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Article

Holoprosencephaly in the genomics era.

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

Roessler Erich, Hu Ping, Muenke Maximilian

Abstract excerpt

Holoprosencephaly (HPE) is the direct consequence of specific genetic and/or environmental insults interrupting the midline specification of the nascent forebrain. Such disturbances can lead to a broad range of phenotypic consequences for the brain and face in humans. This malformation sequence is remarkably common in utero (1 in 250 human fetuses), but 97% typically do not survive to birth. The precise molecular...

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Identifiers

PMID: 29770992
DOI: 10.1002/ajmg.c.31615

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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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