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X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India
INTRODUCTION: X-linked spondyloepiphyseal dysplasia tarda(SEDT) is a type of shorttrunk skeletal dysplasia, occurring in males due to mutation in TRAPPC2 gene. CASE REPORT: We describe a large Indian family with multiple males affected with X-linked SEDT. The affected individuals presented with disp...
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| Vydáno v: | J Orthop Case Rep |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Indian Orthopaedic Research Group
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7476708/ https://ncbi.nlm.nih.gov/pubmed/32953644 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.13107/jocr.2020.v10.i02.1670 |
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