Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.

Autor: Liberalesso PBN; Department of Neuropediatrics, Hospital Pequeno Príncipe, Curitiba, Parana, Brazil.; Universidade Tuiuti do Paraná, Otoneurology Research Center, Curitiba, Parana, Brazil., Cordeiro ML; Neurosciences Research Group, Pelé Pequeno Principe Research Institute, Curitiba, Brazil. mcordeiro@mednet.ucla.edu.; Faculdades Pequeno Principe, Curitiba, Brazil. mcordeiro@mednet.ucla.edu.; Department of Psychiatry and Biobehavioral Sciences of the David Geffen School of Medicine, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, USA. mcordeiro@mednet.ucla.edu., Karuta SCV; Department of Neuropediatrics, Hospital Pequeno Príncipe, Curitiba, Parana, Brazil., Koladicz KRJ; Department of Neuropediatrics, Hospital Pequeno Príncipe, Curitiba, Parana, Brazil., Nitsche A; Department of Neuropediatrics, Hospital Pequeno Príncipe, Curitiba, Parana, Brazil., Zeigelboim BS; Universidade Tuiuti do Paraná, Otoneurology Research Center, Curitiba, Parana, Brazil., Raskin S; Department of Medical Genetics, Hospital Pequeno Príncipe, Curitiba, Parana, Brazil.; Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Science (PPGCS), Health and Biosciences School (ESB), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Parana, Brazil., Rauchman M; Department of Internal Medicine (Nephrology), St. Louis University School of Medicine, and St. Louis VA Medical Center, St. Louis, USA.

Publikováno v: BMC medical genetics [BMC Med Genet] 2017 Nov 06; Vol. 18 (1), pp. 125. Date of Electronic Publication: 2017 Nov 06.