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Smith–Magenis Syndrome: Clues in the Clinic
As a multisystemic congenital mental retardation disorder/anomaly, Smith–Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with haploinsufficiency for the retinoic acid-induced 1 ( RAI1 ) gene. In this art...
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| Udgivet i: | J Pediatr Genet |
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| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Georg Thieme Verlag KG
2020
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| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7396470/ https://ncbi.nlm.nih.gov/pubmed/32765933 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1700965 |
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