BOC is a modifier gene in holoprosencephaly
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DOI: 10.1002/humu.23286
Abstract: 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… read more here.
Keywords: modifier gene; boc modifier; gene holoprosencephaly; hpe ... See more keywords