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A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
We report two brothers from a consanguineous couple with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones, probably representing a yet uncha...
Uloženo v:
| Vydáno v: | Eur J Hum Genet |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4970677/ https://ncbi.nlm.nih.gov/pubmed/26669664 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.261 |
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