Holoprosencephaly: a paradigm for the complex genetics of brain development.

doi:10.1023/a:1005406719292

Back to search

Article

Holoprosencephaly: a paradigm for the complex genetics of brain development.

Journal of inherited metabolic disease - 1 Aug 1998

Roessler E, Muenke M

Abstract excerpt

Holoprosencephaly (HPE) is the most common major developmental defect of the forebrain in humans. Clinical expression is variable, ranging from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial HPE. Significant aetiological heterogeneity exi...

Topics

Animals
Brain
Holoprosencephaly
Humans
Mutation

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.