Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.
- Paulo Breno Noronha Liberalesso,
- Mara L Cordeiro,
- Simone Carreiro Vieira Karuta,
- Karyn Regina Jordão Koladicz,
- Anderson Nitsche,
- Bianca Simone Zeigelboim,
- Salmo Raskin,
- Michael Rauchman
BMC Med Genet 2017 Nov 6;18(1):125. Epub 2017 Nov 6.
Department of Internal Medicine (Nephrology), St. Louis University School of Medicine, and St. Louis VA Medical Center, St. Louis, USA.