Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth.
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ABSTRACT:
SUBMITTER: Noorian S
PROVIDER: S-EPMC8608483 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
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Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth.
Noorian Shahab S Khonsari Nami Mohammadian NM Savad Shahram S Hakak-Zargar Benyamin B Voth Tessa T Kabir Koroush K
Journal of pediatric genetics 20200918 4
Idiopathic short stature (ISS) is a common diagnosis of exclusion in patients with short stature (SS). In this article, we aimed to identify the genetic causes of SS in patients with ISS and investigate treatment options. Fourteen children with diagnosis of ISS were identified, and whole-exome sequencing (WES) was subsequently conducted on blood-derived DNA. Five patients were correctly diagnosed with ISS and four had rare mutations that have not been previously reported. Four patients had mutat ...[more]
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