Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.

Autor: Araujo TF; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil., Ribeiro EM; Children's Hospital Albert Sabin, Fortaleza, CE, Brazil.; Medical Sciences Faculty of Juazeiro do Norte (FMJ), Juazeiro do Norte, CE, Brazil., Arruda AP; Medical Sciences Faculty of Juazeiro do Norte (FMJ), Juazeiro do Norte, CE, Brazil., Moreno CA; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil.; Perinatal Genetics Program, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil., de Medeiros PF; Federal University of Campina Grande, Campina Grande, PB, Brazil., Minillo RM; Children's Clinic, City Hall of Guarulhos, Guarulhos, SP, Brazil., Melo DG; Medical Department, Federal University of de São Carlos (UFSCAR), São Carlos, SP, Brazil., Kim CA; Medical Genetics Unit, Children's Institute, Medical Sciences Faculty, University of São Paulo (FCMUSP), São Paulo, SP, Brazil., Doriqui MJ; Children's Hospital Juvêncio Mattos, São Luís, MA, Brazil., Felix TM; Medical Genetics Service, Clinical Hospital of Porto Alegre, Porto Alegre, RS, Brazil., Fock RA; Centro de Genética Médica da Universidade Federal de São Paulo, São Paulo, SP, Brazil., Cavalcanti DP; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil. denisepcavalcanti@gmail.com.; Perinatal Genetics Program, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil. denisepcavalcanti@gmail.com.

Publikováno v: European journal of medical research [Eur J Med Res] 2016 Aug 24; Vol. 21 (1), pp. 33. Date of Electronic Publication: 2016 Aug 24.