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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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Detalhes bibliográficos
Main Authors: Girirajan, S, Elsas, L, Devriendt, K, Elsea, S
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2005
Assuntos:
Acesso em linha: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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