Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype‐phenotype correlations

BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, dysmorphic features, ataxia, seizures, and typical behavioural characteristics, including a happy sociable disposition. AS is caused by maternal deficiency of UBE3A (E6 associated protein...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Sahoo, T, Peters, S U, Madduri, N S, Glaze, D G, German, J R, Bird, L M, Barbieri‐Welge, R, Bichell, T J, Beaudet, A L, Bacino, C A
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2006
Matèries:
Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564536/
https://ncbi.nlm.nih.gov/pubmed/16183798
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.036913
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars