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Clinical characterization of the HOXA1 syndrome BSAS variant
BACKGROUND: The Bosley-Salih-Alorainy syndrome (BSAS) variant of the congenital human HOXA1 syndrome results from autosomal recessive truncating HOXA1 mutations. We describe the currently recognized spectrum of ocular motility, inner ear malformations, cerebrovascular anomalies, and cognitive functi...
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| Main Authors: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2007
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2826214/ https://ncbi.nlm.nih.gov/pubmed/17875913 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000276947.59704.cf |
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