Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
A.P. Holtz, Liliane Todeschini de Souza, Erlane Marques Ribeiro, Angelina Xavier Acosta, R.M.R.S. Lago, G. Simoni, Juan Clinton Llerena, Têmis Maria Félix
Topics & Concepts
Osteogenesis imperfectaCohortMedicineGenetic heterogeneityGeneticsExome sequencingCoding regionInternal medicineBiologyGeneMutationPathologyPhenotypeConnective tissue disorders researchBone and Dental Protein StudiesDermatological and Skeletal Disorders