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Article

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

14 Nov 2022

Abstract excerpt

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 and methods: We selected 102 children with ISS and performed the genetic analysis as part of the initial...

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PMID: 36373817
DOI: 10.1530/ec-22-0214

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