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impe0096fc4.3 | Growth and Syndromes | IMPE2023

Diagnostic yield of a multigene approach in children with short stature of unknown cause: It is time to remove the term idiopathic!

Andrade Nathalia , Funari Mariana , Malaquias Alexsandra , Dantas Naiara , Rezende Raissa , Cellin Laurana , Homma Thais , Lucheze Bruna , Lerario Antonio , Arnhold Ivo , Vasques Gabriela , Jorge Alexander

Introduction: The genetic factors are frequently implicated in the growth impairment of short stature (SS) children, whether they are syndromic or apparently healthy. However, the investigation recommended by the consensus fails to establish the etiology in most cases. The difficulty to search for candidate genes increases the importance of using a hypothesis-free approach as whole exome sequencing (WES) for these children. Objective: To determine the diagnost...

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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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IMPE Abstracts

Diagnostic yield of a multigene approach in children with short stature of unknown cause: It is time to remove the term idiopathic!

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

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