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Article

Molecular testing in holoprosencephaly.

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

Kruszka Paul, Martinez Ariel F, Muenke Maximilian

Abstract excerpt

Holoprosencephaly (HPE) is a structural brain anomaly characterized by failure of the forebrain to separate during early embryogenesis. Both genetic and environmental etiologies of HPE have been discovered over the last three decades. Traditionally, the genetic workup for HPE has been a karyotype, chromosomal microarray, and/or Sanger sequencing of select genes. The recent increased availability of...

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Identifiers

PMID: 29771000
DOI: 10.1002/ajmg.c.31617
PMCID: PMC6125165

Genes

FGFR1

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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