Pathogenesis of holoprosencephaly

Xin Geng, Guillermo Oliver*

*Corresponding author for this work

Research output: Contribution to journalReview article

57 Scopus citations

Abstract

Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. HPE is etiologically heterogeneous, and its pathology is variable. Several mouse models of HPE have been generated, and some of the molecular causes of different forms of HPE and the mechanisms underlying its variable pathology have been revealed by these models. Herein, we summarize the current knowledge on the genetic alterations that cause HPE and discuss some important questions about this disease that remain to be answered.

Original languageEnglish (US)
Pages (from-to)1403-1413
Number of pages11
JournalJournal of Clinical Investigation
Volume119
Issue number6
DOIs
StatePublished - Jun 1 2009

ASJC Scopus subject areas

  • Medicine(all)

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