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Article

Genetic approaches to understanding brain development: Holoprosencephaly as a model

1 Jan 2000

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 etiologic heterogeneity exists in HPE and includes both genetic and environmental causes. Defects in the cell signaling pathway involving the Sonic...

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PMID: 10899793
DOI: 10.1002/(sici)1098-2779(2000)6:1<15::aid-mrdd3>3.0.co;2-8

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