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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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| Publicado no: | Balkan J Med Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
De Gruyter
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5343336/ https://ncbi.nlm.nih.gov/pubmed/28289594 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/bjmg-2016-0041 |
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