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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...
Autores principales: | Costantini, Alice, Muurinen, Mari H, Mäkitie, Outi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2021
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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 |
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