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J Clin Invest. 2009 Jun;119(6):1403-13. doi: 10.1172/JCI38937. Epub 2009 Jun 1.

Pathogenesis of holoprosencephaly.

Author information

  • 1Department of Genetics and Tumor Cell Biology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.

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.

PMID:
19487816
[PubMed - indexed for MEDLINE]
PMCID:
PMC2689134
Free PMC Article

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