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Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia
BACKGROUND: Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. However, descriptions of the expressivity of MCDS are rare. METHODS: Two probands...
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| Veröffentlicht in: | BMC Med Genet |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2019
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6923838/ https://ncbi.nlm.nih.gov/pubmed/31856751 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0937-1 |
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