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RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions
Background: Smith–Magenis syndrome (SMS) (OMIM No 182290) is a mental retardation syndrome characterised by behavioural abnormalities, including self injurious behaviours, sleep disturbance, and distinct craniofacial and skeletal anomalies. It is usually associated with deletion involving 17p11.2 an...
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| Autores principales: | , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMJ Group
2005
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1735950/ https://ncbi.nlm.nih.gov/pubmed/15788730 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.031211 |
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