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impe0096fc15.2 | Puberty and Pituitary | IMPE2023

Several new candidate genes for self-limited delayed puberty revealed by whole exome sequencing

Rezende Raissa , Schafer Evan , Kaisinger Lena , Dantas Naiara , Andrade Nathalia , Cellin Laurana , Quedas Elisangela , He Wen , Perry John , Claudia Latronico Xavier Ana , Howard Sasha , Chan Yee-Ming , Jorge Alexander

Introduction: Self-limited delayed puberty is defined as the absence of pubertal signs by 13 years in girls and 14 years in boys, but with normal pubertal development starting before 18 years of age. This condition is known for its strong heritability. This study aimed to identify new candidate genes for pubertal delay.Methods: Fifty-six patients with confirmed self-limited delayed puberty after retrospective evaluation ...

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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

Several new candidate genes for self-limited delayed puberty revealed by whole exome sequencing

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

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