Caricamento...

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Duplications of the proximal long arm of chromosome 15 have been seen in the Prader-Willi syndrome (PWS), and in subjects without the Prader-Willi phenotype but with other clinical features including short stature, diabetes, anal and jejunal atresia, and acanthosis nigricans. The non-PWS subjects al...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Med Genet
Autori principali: Clayton-Smith, J, Webb, T, Cheng, X J, Pembrey, M E, Malcolm, S
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 1993
Soggetti:
Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016435/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8326502/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.6.529
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !