NDLI: Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth

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Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth

Content Provider	Scilit
Author	Noorian, Shahab Khonsari, Nami Mohammadian Savad, Shahram Hakak-Zargar, Benyamin Voth, Tessa Kabir, Koroush
Copyright Year	2020
Description	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 mutations known to cause SS and one had a mutation that was known not to affect height. WES can help identify rare mutations implicated in ISS.
Related Links	http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1716400.pdf
Ending Page	291
Page Count	8
Starting Page	284
ISSN	21464596
DOI	10.1055/s-0040-1716400
Journal	Journal of Pediatric Genetics
Issue Number	04
Volume Number	10
Language	English
Publisher	Georg Thieme Verlag KG
Publisher Date	2020-09-18
Access Restriction	Open
Subject Keyword	Journal: Journal of Pediatric Genetics Pediatrics and Child Health Idiopathic Short Stature Whole-exome Sequencing
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical) Pediatrics, Perinatology and Child Health

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