Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

Nathalia Andrade,Mariana Funari,Alexsandra Malaquias,Paulo Collett-Solberg,Nathalia Gomes,Renata Scalco,Naiara Dantas,Raissa Rezende,Angelica Tiburcio,Micheline Souza,Bruna Freire,Ana Krepischi,Carlos Longui,Antonio Lerario,Ivo Arnhold,Alexander Jorge,Gabriela Vasques

HORMONE RESEARCH IN PAEDIATRICS（2022）

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摘要

A multigene sequencing approach can determine the genetic etiology of short stature in up to one in six children with ISS, removing the term idiopathic from their clinical classification.

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关键词

genetic,idiopathic short stature,multigene sequencing analysis,mutation

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