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Article

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

26 Jan 2010

Abstract excerpt

Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly variable degrees of craniofacial and midline anomalies. HPE is a classic example of a complex genetic trait with "pseudo"-autosomal dominant transmission showing incomplete penetrance and...

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PMID: 20104604
DOI: 10.1002/ajmg.c.30253

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