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Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report
BACKGROUND: Linear bone growth is achieved by the division of chondrocytes at the growth plate and is regulated by endocrine and paracrine factors such as growth hormone. Mutations that negatively affect chondrogenesis can be a contributor to short stature. One such mutation can occur in the ACAN ge...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7492327/ https://www.ncbi.nlm.nih.gov/pubmed/32935225 http://dx.doi.org/10.1186/s40348-020-00104-6 |