Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience

Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience

Purpose We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra. Methods We reviewed the medical records of 50 patients who underwent genetic testing using NGS for suspe...

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Bibliographic Details
Main Authors: Su Jin Kim, Eunyoung Joo, Jisun Park, Chang Ahn Seol, Ji-Eun Lee
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2024-02-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
dwarfism
growth hormone
next-generation sequencing
Online Access:http://e-apem.org/upload/pdf/apem-2346036-018.pdf

Internet

http://e-apem.org/upload/pdf/apem-2346036-018.pdf

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