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

Nathalia Liberatoscioli Menezes AndradeMariana Ferreira de Assis FunariAlexsandra Christianne MalaquiasPaulo Ferrez Collett-SolbergNathalia L R A GomesRenata ScalcoNaiara Castelo Branco DantasRaissa C RezendeAngelica M F P TiburcioMicheline A R SouzaBruna L FreireAna C V KrepischiCarlos Alberto LonguiAntonio Marcondes LerarioIvo J P ArnholdAlexander Augusto de Lima JorgeGabriela Andrade Vasques

Published in: Endocrine connections (2022)

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.

Keyphrases

young adults
single cell
machine learning
deep learning
preterm infants
growth hormone
gene expression
dna methylation
preterm birth