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A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity
The purpose of this study was to describe a family with spondyloepiphyseal dysplasia caused by a novel type II collagen gene (COL2A1) mutation and the family’s phenotypic diversity. Clinical and radiographic examinations of skeletal dysplasia were conducted on seven affected family members across tw...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Hum Genome Var |
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| Κύριοι συγγραφείς: | , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4871930/ https://ncbi.nlm.nih.gov/pubmed/27274858 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.7 |
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