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A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease
Heterozygous mutations in the ACAN gene have been reported in individuals with short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans. We report a family with a phenotypic constellation carrying a novel mutation in the ACAN gene. The proband...
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| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7712780/ https://ncbi.nlm.nih.gov/pubmed/33298914 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00132-8 |
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