Sign Up to like & get
recommendations!
1
Published in 2017 at "Human Mutation"
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