Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

  title={Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly},
  author={Elena Belloni and Maximilian Muenke and Erich Roessler and Gilles Traverse and Jacqueline Siegel-Bartelt and Ayala Frumkin and Heather Mitchell and Helen Donis-Keller and Cynthia Helms and Anne V. Hing and H G Heng and Ben F. Koop and Diane Martindale and Johanna M Rommens and L. -C. Tsui and Stephen W. Scherer},
  journal={Nature Genetics},
Holoprosencephaly (HPE) is a genetically and phenotypically heterogenous disorder involving the development of forebrain and midface, with an incidence of 1:16,000 live born and 1:250 induced abortions1. This disorder is associated with several distinct facies and phenotypic variability: in the most extreme cases, anophthalmia or cyclopia is evident along with a congenital absence of the mature nose. The less severe form features facial dysmorphia characterized by ocular hypertelorism, defects… CONTINUE READING
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