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Titolo:
Rett syndrome: Clinical update and review of recent genetic advances
Autore:
Ellaway, C; Christodoulou, J;
Indirizzi:
Royal Alexandra Hosp Children, Western Sydney Genet Program, Westmead, NSW2124, Australia Royal Alexandra Hosp Children Westmead NSW Australia 2124 2124, Australia Univ Sydney, Dept Pediat & Child Hlth, Sydney, NSW 2006, Australia Univ Sydney Sydney NSW Australia 2006 d Hlth, Sydney, NSW 2006, Australia
Titolo Testata:
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
fascicolo: 5, volume: 35, anno: 1999,
pagine: 419 - 426
SICI:
1034-4810(199910)35:5<419:RSCUAR>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
X-CHROMOSOME; NATURAL-HISTORY; MITOCHONDRIAL ABNORMALITIES; DIFFERENTIAL-DIAGNOSIS; OXIDATIVE-METABOLISM; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; TRANSLOCATION; INHERITANCE; MALES;
Keywords:
chromosome; Rett syndrome;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
106
Recensione:
Indirizzi per estratti:
Indirizzo: Christodoulou, J Royal Alexandra Hosp Children, Western Sydney Genet Program, POB 3515, Westmead, NSW 2124, Australia Royal Alexandra Hosp Children POB 3515 Westmead NSW Australia 2124
Citazione:
C. Ellaway e J. Christodoulou, "Rett syndrome: Clinical update and review of recent genetic advances", J PAEDIAT C, 35(5), 1999, pp. 419-426

Abstract

Rett syndrome, a severe neurodevelopmental disorder occurring almost exclusively in females, is thought to be the second most common cause of profound mental retardation in females after Down syndrome. Recent genetic advances suggest the gene for Rett syndrome to be located on the distal arm of theX chromosome, Xq28. This manuscript reviews the clinical phenotype, natural history and current genetic understanding of the disorder.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 13:08:09