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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...
Kaydedildi:
| Yayımlandı: | Hum Genome Var |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group UK
2020
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| Konular: | |
| Online Erişim: | 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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