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Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome
Elastin haploinsufficiency is responsible for a significant portion of the Williams syndrome (WS) phenotype including hoarse voice, supravalvar aortic stenosis (SVAS), hernias, diverticuli of bowel and bladder, soft skin, and joint abnormalities. All of the connective tissue signs and symptoms are v...
Gorde:
| Egile Nagusiak: | , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2010
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2911626/ https://ncbi.nlm.nih.gov/pubmed/20425789 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30265 |
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