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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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| Published in: | BMC Med Genet |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2019
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| Subjects: | |
| Online Access: | 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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