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Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia
Autosomal recessive omodysplasia (GPC6-related) is a rare short-limb skeletal dysplasia caused by biallelic mutations in the GPC6 gene. Affected individuals manifest with rhizomelic short stature, decreased mobility of elbow and knee joints as well as craniofacial anomalies. Both upper and lower lim...
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| Yayımlandı: | Mol Syndromol |
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| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
S. Karger AG
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7325126/ https://ncbi.nlm.nih.gov/pubmed/32655339 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000506384 |
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