Analysis of children with familial short stature: who should be indicated for genetic testing?

Analysis of children with familial short stature: who should be indicated for genetic testing?

Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected. Clinical predictors of monogenic FSS have not been elucidated. The aim of the study was to identif...

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Bibliographic Details
Main Authors: Lukas Plachy, Lenka Petruzelkova, Petra Dusatkova, Klara Maratova, Dana Zemkova, Lenka Elblova, Vit Neuman, Stanislava Kolouskova, Barbora Obermannova, Marta Snajderova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Format: Article
Language:English
Published: Bioscientifica 2023-10-01
Series:Endocrine Connections
Subjects:
familial short stature
next-generation sequencing
growth plate disorders
gh treatment
predictors of monogenic short stature
Online Access:https://ec.bioscientifica.com/view/journals/ec/12/10/EC-23-0238.xml

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