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impe0096p101 | Growth and Syndromes | IMPE2023

A prospective genetic analysis of children with idiopathic short stature (ISS) using whole-exome sequencing (WES): first results

P Cellin Laurana , L M Andrade Nathalia , C Rezende Raissa , de Souza Vinícius , C B Dantas Naiara , P S Quedas Elisangela , F A Funari Mariana , A Vasques Gabriela , C Scalco Renata , A C Malaquias Alexsandra , A L Jorge Alexander

Introduction: Children classified as idiopathic short stature (ISS) may have a monogenic cause that can explain their growth disorder. In this context, genetic tests emerge as a new diagnostic tool. Objectives: To determine the usefulness of WES for the genetic investigation of children with ISS.Patients and Methods: We sequentially enrolled 95 children with ISS without previous genetic testing, except for karyotyping fo...

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A prospective genetic analysis of children with idiopathic short stature (ISS) using whole-exome sequencing (WES): first results

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