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Disease: Leiomyomatosis- esophageal and vulval- with nephropathy

  • A 7-Year-Old Boy With Alport Syndrome and Vomiting
  • Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2
  • Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes
  • Comprehensive management of diffuse leiomyomatosis in a patient with Alport syndrome
  • Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
  • Familial esophageal leiomyomatosis associated with Alport's syndrome in a 9-year-old boy
  • Leiomyomatosis of the esophagus, tracheo-bronchi and genitals associated with Alport type hereditary nephropathy: a new 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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