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