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Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features

A novel 19.98-Mb duplication in chromosome Xp22.33p22.12 was detected by array CGH in a 30-year-old man affected by intellectual disability, congenital hypotonia and dysmorphic features. The duplication encompasses more than 100 known genes. Many of these genes (such as neuroligin 4, cyclin-dependen...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Syndromol
Prif Awduron: Lintas, Carla, Picinelli, Chiara, Piras, Ignazio S., Sacco, Roberto, Gabriele, Stefano, Verdecchia, Magda, Persico, Antonio M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: S. Karger AG 2016
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4772714/
https://ncbi.nlm.nih.gov/pubmed/26997944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000443232
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