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A Distinct X-Linked Syndrome Involving Joint Contractures, Keloids, Large Optic Cup-to-Disc Ratio, and Renal Stones Results From a Filamin A (FLNA) Mutation
We further evaluated a previously reported family with an apparently undescribed X-linked syndrome involving joint contractures, keloids, an increased optic cup-to-disc ratio, and renal stones to elucidate the genetic cause. To do this, we obtained medical histories and performed physical examinatio...
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| Gepubliceerd in: | Am J Med Genet A |
|---|---|
| Hoofdauteurs: | , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2016
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5549633/ https://ncbi.nlm.nih.gov/pubmed/26804200 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37567 |
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