SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor

Am J Med Genet A. 2005 Aug 1;136A(4):345. doi: 10.1002/ajmg.a.30624.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Choanal Atresia / pathology
  • Family Health
  • Female
  • Growth Disorders / pathology
  • Hedgehog Proteins
  • Holoprosencephaly / genetics
  • Holoprosencephaly / pathology*
  • Humans
  • Incisor / abnormalities
  • Infant, Newborn
  • Maxilla
  • Mothers
  • Mutation, Missense*
  • Obesity / pathology
  • Trans-Activators / genetics*

Substances

  • Hedgehog Proteins
  • SHH protein, human
  • Trans-Activators