Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p116 | (1) | ICCBH2019

Molecular genetic diagnosis and genotype-phenotype correlations in children and adolescents with recurrent fractures

Del Gigante Jessica , Munns Craig , Biggin Andrew

Objectives: To evaluate the diagnostic outcomes of massively parallel sequencing (MPS) and identify genotype-phenotype correlations in children and adolescents with recurrent fractures.Methods: A retrospective chart audit was conducted of children and adolescents referred to the endocrine clinic at a tertiary childrenÂ’s referral hospital with a history of recurrent fractures. Phenotypic data including fracture history, bone mineral density (BMD) and...