Abstract Search

hrp0094fc3.4 | Growth Disorders | ESPE2021

Prospective genetic analysis by a targeted gene panel of a cohort of patients classified as idiopathic short stature (ISS)

Andrade Nathalia , Funari Mariana , Lerario Antonio , Malaquias Alexsandra , Solberg Paulo , Lisboa Nathalia , Rayol Micheline , Dantas Naiara , Rezende Raissa , Lucheze Bruna , Quedas Elisangela , Krepischi Ana , Arnhold Ivo , Vasques Gabriela , Jorge Alexander ,

Introduction: The majority of children with short stature are classified as ISS by the absence of findings that could elucidate the cause of their growth impairment. Several monogenic defects have already been identified in children with ISS, but the candidate gene approach is not feasible when there are no specific findings to guide a specific genetic test.Objective: To evaluate the diagnostic yield of a targeted gene p...

0 shares

ESPE Abstracts

Prospective genetic analysis by a targeted gene panel of a cohort of patients classified as idiopathic short stature (ISS)

BiosciAbstracts