The association of Angelman's syndrome with deletions within 15q11-13.

The inheritance of Angelman's syndrome, a disorder characterised by mental retardation, epilepsy, ataxia, and a happy disposition, is debated because affected sibs occur less frequently than expected with autosomal recessive inheritance. After discovering two unrelated patients with a small del...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Pembrey, M, Fennell, S J, van den Berghe, J, Fitchett, M, Summers, D, Butler, L, Clarke, C, Griffiths, M, Thompson, E, Super, M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1989
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015553/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2918545/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.26.2.73
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