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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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Detalles Bibliográficos
Autores principales: Costantini, Alice, Muurinen, Mari H, Mäkitie, Outi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8183621/
https://www.ncbi.nlm.nih.gov/pubmed/33830070
http://dx.doi.org/10.1530/EC-21-0083