holoprosencephaly type 3 (HPE3)
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Introduction
Genetics
- associated with defects in SHH (sonic hedgehog)
- the majority of HPE3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described
- up to 30% of obligate carriers of HPE3 gene in autosomal dominant pedigrees are clinically unaffected
More general terms
References
- ↑ Belloni E et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nature Genet 14:353-6 1996 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8896571
- ↑ Roessler E et al Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nature Genet 14:357-60 1996 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8896572