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. DESIGN...

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Detalles Bibliográficos
Autores principales: Andrade, Nathalia Liberatoscioli Menezes, Funari, Mariana Ferreira de Assis, Malaquias, Alexsandra Christianne, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia L R A, Scalco, Renata, Dantas, Naiara Castelo Branco, Rezende, Raissa C, Tiburcio, Angelica M F P, Souza, Micheline A R, Freire, Bruna L, Krepischi, Ana C V, Longui, Carlos Alberto, Lerario, Antonio Marcondes, Arnhold, Ivo J P, Jorge, Alexander A L, Vasques, Gabriela Andrade
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716379/
https://www.ncbi.nlm.nih.gov/pubmed/36373817
http://dx.doi.org/10.1530/EC-22-0214

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