New gene discoveries in skeletal diseases with short stature

In the last decade, the widespread use of massively parallel sequencing has considerably boosted the number of novel gene discoveries in monogenic skeletal diseases with short stature. Defects in genes playing a role in the maintenance and function of the growth plate, the site of longitudinal bone...

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Bibliographic Details
Main Authors: Alice Costantini, Mari H Muurinen, Outi Mäkitie
Format: Article
Language:English
Published: Bioscientifica 2021-05-01
Series:Endocrine Connections
Online Access:https://ec.bioscientifica.com/view/journals/ec/10/5/EC-21-0083.xml