BOC is a modifier gene in holoprosencephaly.

Abstract excerpt

Holoprosencephaly (HPE), a common developmental defect of the forebrain and midface, has a complex etiology. Heterozygous, loss-of-function mutations in the sonic hedgehog (SHH) pathway are associated with HPE. However, mutation carriers display highly variable clinical presentation, leading to an "autosomal dominant with modifier" model, in which the penetrance and expressivity of a predisposing mutation is...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Gene Expression
• Share to Genes, Modifier
• Share to Holoprosencephaly