Holoprosencephaly: A paradigm for the complex genetics of brain development

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 exists...

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Bibliographic Details

Published in:	Journal of inherited metabolic disease Vol. 21; no. 5; pp. 481 - 497
Main Authors:	Roessler, E., Muenke, M.
Format:	Journal Article Conference Proceeding
Language:	English
Published:	Dordrecht Kluwer Academic Publishers 01-08-1998 Springer
Subjects:	Animals Biological and medical sciences Brain - abnormalities Holoprosencephaly - genetics Humans Malformations of the nervous system Medical sciences Mutation Neurology Human Arhinencephaly Signal Cell function Review Genetic determinism
Online Access:	Get full text
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