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Dominant and Recessive Forms of Fibrochondrogenesis Resulting from Mutations at a Second Locus, COL11A2
Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutations in the gene encoding the proα1(XI) chain of type XI collagen, COL11A1. The first of two cases reported here was the affected offspring of first cousins and sequence analysis excluded mutations in...
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| Main Authors: | , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2012
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3264686/ https://ncbi.nlm.nih.gov/pubmed/22246659 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34406 |
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