Pregled bibliografske jedinice broj: 173909
Atypical clinical presentation in a girl with Angelman syndrome
Atypical clinical presentation in a girl with Angelman syndrome // Paediatria croatica, 48 (2004), 2; 1-104 (podatak o recenziji nije dostupan, kongresno priopcenje, stručni)
CROSBI ID: 173909 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Atypical clinical presentation in a girl with Angelman syndrome
Autori
Gjerga, R. ; Cvitanović-Šojat, Lj. ; Seneca, S. ; Lasan, R. ; Crkvenac-Gornik, K.
Izvornik
Paediatria croatica (1330-724X) 48
(2004), 2;
1-104
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, stručni
Ključne riječi
Angelman syndrome; uniparental disomy; mental retardation
Sažetak
We descrabe a 10.5 year-old girl with AS. The normal growth parameters, lacks of seizures or gait ataxia do not exclude the possibility of AS in mentally retarde children with a happy disposition. EEG should be done in every child with cryptogenic psychomotor retardation because the characteristic EEG pattern appears early and is specific to As.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Citiraj ovu publikaciju:
Časopis indeksira:
- Scopus
