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

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

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene analysis in children classified as ISS. Desig...

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Main Authors: Nathalia Liberatoscioli Menezes Andrade, Mariana Ferreira de Assis Funari, Alexsandra Christianne Malaquias, Paulo Ferrez Collett-Solberg, Nathalia L R A Gomes, Renata Scalco, Naiara Castelo Branco Dantas, Raissa C Rezende, Angelica M F P Tiburcio, Micheline A R Souza, Bruna L Freire, Ana C V Krepischi, Carlos Alberto Longui, Antonio Marcondes Lerario, Ivo J P Arnhold, Alexander A L Jorge, Gabriela Andrade Vasques
Format: Article
Language:English
Published: Bioscientifica 2022-11-01
Series:Endocrine Connections
Subjects:
idiopathic short stature
multigene sequencing analysis
genetic
mutation
Online Access:https://ec.bioscientifica.com/view/journals/ec/11/12/EC-22-0214.xml

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https://ec.bioscientifica.com/view/journals/ec/11/12/EC-22-0214.xml

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