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Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are respon...
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| Udgivet i: | Korean J Pediatr |
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| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The Korean Pediatric Society
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5177705/ https://ncbi.nlm.nih.gov/pubmed/28018439 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S25 |
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