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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...

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Bibliografiska uppgifter
I publikationen:Child Neurology Open
Huvudupphovsmän: Anand Ramineni BSc, MBBS, GSCpMed, David Coman MBBS, MPhil, FRACP
Materialtyp: Artikel
Publicerad: SAGE Publishing 2016-08-01
Länkar:https://doi.org/10.1177/2329048X16666362
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