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Disease: Hirschsprung microcephaly cleft palate

  • Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions
  • Goldberg-Shprintzen syndrome: report of a new family and review of the literature
  • Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome
  • Hirschsprung megacolon and cleft palate in two sibs
  • Smith-Lemli-Opitz Syndrome
  • Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
  • Two brothers with Goldberg-Shprintzen syndrome
  • Use of Foley's catheter as a tourniquet for the management of vascular lesion of lip in Mowat-Wilson syndrome
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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