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Disease: Winter Shortland Temple syndrome

  • A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome
  • A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
  • Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome
  • Death following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic
  • Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn
  • Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome
  • Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome: reply from the authors
  • Occurrence and characterization of medulloblastoma in a patient with Curry-Jones 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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