A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profo...
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| Principais autores: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Sciendo
2016-12-01
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| Serier: | Balkan Journal of Medical Genetics |
| Fag: | |
| Online adgang: | https://doi.org/10.1515/bjmg-2016-0041 |
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