Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes
โ Scribed by Toshitaka Oohashi; Ichiro Naito; Yasuyoshi Ueki; Tomoki Yamatsuji; Rattiya Permpoon; Noriaki Tanaka; Yoshio Naomoto; Yoshifumi Ninomiya
- Book ID
- 116729948
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 997 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0945-053X
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๐ SIMILAR VOLUMES
## Communicated by Sesgio Otrdenghi Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene.
Diffuse leiomyomatosis is associated with the inherited kidney disease Alport syndrome, and characterized by visceral smooth muscle overgrowth within the respiratory, gastrointestinal and female reproductive tracts. Although partial deletions of the type IV collagen genes COL4A5 and COL4A6, paired h