Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Mol Syndromol |
|---|---|
| Prif Awduron: | , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
S. Karger AG
2016
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| 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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