Holoprosencephaly 7

Common Name(s)

Holoprosencephaly 7

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated ({4:Ming et al., 2002}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Holoprosencephaly 7" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Holoprosencephaly 7" returned 1 free, full-text research articles on human participants. First 3 results:

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
 

Author(s): M Muenke, F Gurrieri, C Bay, D H Yi, A L Collins, V P Johnson, R C Hennekam, G B Schaefer, L Weik, M S Lubinsky

Journal: Proc. Natl. Acad. Sci. U.S.A.. 1994 Aug;91(17):8102-6.

 

Holoprosencephaly (HPE) is a common malformation of the developing forebrain and midface characterized by incomplete penetrance and variable expressivity. Familial HPE has been reported in many families with autosomal dominant inheritance in some and apparent autosomal recessive inheritance ...

Last Updated: 14 Sep 1994

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The terms "Holoprosencephaly 7" returned 0 free, full-text review articles on human participants.

 
 
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