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holoprosencephaly type 3 (HPE3)

see holoprosencephaly 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

Database Correlations

OMIM correlations MORBIDMAP 600725

References

  1. Belloni E et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nature Genet 14:353-6 1996 PMID: 8896571
  2. Roessler E et al Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nature Genet 14:357-60 1996 PMID: 8896572