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First reported adult patient with TARP syndrome: A case report
TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistence of the left superior vena cava) is a rare X‐linked syndrome often resulting in pre‐ or post‐natal lethality in affected males. In 2010, RBM10 was identified as the disease‐causing gene, and we describe the firs...
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| Pubblicato in: | Am J Med Genet A |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley & Sons, Inc.
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6587983/ https://ncbi.nlm.nih.gov/pubmed/30462380 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40638 |
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