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De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome
Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis–ptosis–epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome. The authors report a young female patient pre...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417291/ https://www.ncbi.nlm.nih.gov/pubmed/28503614 http://dx.doi.org/10.1177/2329048X16666362 |