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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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| Publicat a: | Mol Syndromol |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
S. Karger AG
2020
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| Matèries: | |
| Accés en línia: | 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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