Cargando...

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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Girirajan, S, Elsas, L, Devriendt, K, Elsea, S
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2005
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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!