Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 119, Issue 6, Pages 1403-1413Publisher
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI38937
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Funding
- NIH [R01 NS052386]
- Cancer Center Support [CA-21765]
- American Lebanese Syrian Associated Charities (ALSAC)
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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.
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