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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...
Tallennettuna:
| Julkaisussa: | Hum Genome Var |
|---|---|
| Päätekijät: | , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group UK
2020
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| Aiheet: | |
| Linkit: | 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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