Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

Autor: Santana LS; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Caetano LA; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Costa-Riquetto AD; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Quedas EPS; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Nery M; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Collett-Solberg P; Department of Endocrinology, University of Rio de Janeiro State (UERJ), Rio de Janeiro, RJ, Brazil., Boguszewski MCS; Departamento de Pediatria, Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil., Vendramini MF; Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo (HSPE-SP), Sao Paulo, SP, Brazil., Crisostomo LG; Serviço de Endocrinologia, Hospital Israelita Albert Eisntein, Sao Paulo, SP, Brazil.; Faculdade de Medicina, Centro Universitário São Camilo, Sao Paulo, SP, Brazil., Floh FO; Serviço de Endocrinologia, Hospital Israelita Albert Eisntein, Sao Paulo, SP, Brazil., Zarabia ZI; Serviço de Endocrinologia, Hospital Infantil Dr. Jeser Amarante Faria, Joinville, SC, Brazil., Kohara SK; Serviço de Endocrinologia, Universidade da Região de Joinville (UNIVILLE), Joinville, SC, Brazil., Guastapaglia L; Serviço de Endocrinologia, Hospital do Servidor Público Municipal de São Paulo (HSPM-SP), Sao Paulo, SP, Brazil., Passone CGB; Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, SP, Brazil., Sewaybricker LE; Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil., Jorge AAL; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Teles MG; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.

Publikováno v: Clinical genetics [Clin Genet] 2017 Oct; Vol. 92 (4), pp. 388-396. Date of Electronic Publication: 2017 Apr 12.