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Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL), leptodactylic (lepto-SEMDJL) or Hall type, is an autosomal-dominant skeletal dysplasia manifesting with short stature, joint laxity with dislocation(s), limb malalignment, and spinal deformity. Its causative gene mutation has not yet been...
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| Autors principals: | , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3234366/ https://ncbi.nlm.nih.gov/pubmed/22152677 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.10.015 |
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