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Titolo:
NIJMEGEN BREAKAGE SYNDROME
Autore:
VANDERBURGT I; CHRZANOWSKA KH; SMEETS D; WEEMAES C;
Indirizzi:
UNIV NIJMEGEN HOSP,DEPT HUMAN GENET,POB 9100 6500 HB NIJMEGEN NETHERLANDS UNIV NIJMEGEN HOSP,DEPT PAEDIAT 6500 HB NIJMEGEN NETHERLANDS MEM HOSP WARSAW,CHILD HLTH CTR,DEPT HUMAN GENET WARSAW POLAND
Titolo Testata:
Journal of Medical Genetics
fascicolo: 2, volume: 33, anno: 1996,
pagine: 153 - 156
SICI:
0022-2593(1996)33:2<153:NBS>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMOSOMAL INSTABILITY DISORDER; ATAXIA-TELANGIECTASIA; IMMUNODEFICIENCY; COMPLEMENTATION; PATIENT;
Keywords:
NIJMEGEN BREAKAGE SYNDROME; ATAXIA TELANGIECTASIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
25
Recensione:
Indirizzi per estratti:
Citazione:
I. Vanderburgt et al., "NIJMEGEN BREAKAGE SYNDROME", Journal of Medical Genetics, 33(2), 1996, pp. 153-156

Abstract

Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinicalfindings are quite different. NBS appears to be a separate entity notallelic with AT.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 17:31:48