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Holoprosencephaly

Known as: HPEC, HPE, FAMILIAL, Holoprosencephaly (HPE) 
Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and… 
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
Holoprosencephaly (HPE) is genetically heterogeneous. Variable phenotypic manifestations within families with normal and affected… 
Review
2005
Review
2005
epto-optic dysplasia is defined by a variable combiation of dysgenesis of midline brain structures includng optic nerve… 
Highly Cited
2004
Highly Cited
2004
Mutations of the developmental gene Sonic hedgehog (SHH) and alterations of SHH signaling have been associated with… 
Review
1998
Review
1998
Only four of over 30 possible defects of cholesterol biosynthesis have been described. Mevalonic aciduria due to mevalonate… 
Highly Cited
1993
Highly Cited
1993
Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE… 
Highly Cited
1991
Highly Cited
1991
Previous studies in rodents have indicated that the facial changes of fetal alcohol syndrome (FAS) closely resemble those of a…