Familial Short Stature - a Novel Phenotype of Growth Plate Collagenopathies

Backround: Collagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with asymmetric short stature (e.g. Kniest dysplasia, spondyloepiphyseal dysp...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Plachy, Lukas, Dusatkova, Petra, Maratova, Klara, Petruzelkova, Lenka, Kolouskova, Stanislava, Snajderova, Marta, Obermannova, Barbora, Zemkova, Dana, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
Pediatric Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8090452/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.1472
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