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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Bioscientifica 2023-10-01
coleção:	Endocrine Connections
Assuntos:	familial short stature next-generation sequencing growth plate disorders gh treatment predictors of monogenic short stature
Acesso em linha:	https://ec.bioscientifica.com/view/journals/ec/12/10/EC-23-0238.xml
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!