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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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| Publicado no: | Mol Syndromol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2020
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| Assuntos: | |
| Acesso em linha: | 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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