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Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review
BACKGROUND: Mutations in the aggrecan (ACAN) gene are identified in patients with: spondyloepiphyseal dysplasia, Kimberley type; short stature with advanced bone age (BA); in the presence or absence of heterozygous ACAN mutation-induced early-onset osteoarthritis and/or osteochondritis dissecans; an...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8968812/ https://www.ncbi.nlm.nih.gov/pubmed/35434101 http://dx.doi.org/10.12998/wjcc.v10.i9.2811 |