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Titolo:
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
Autore:
Clayton-Smith, J; Watson, P; Ramsden, S; Black, GCM;
Indirizzi:
St Marys Hosp, Univ Dept Med Genet, Manchester M13 0JH, Lancs, England St Marys Hosp Manchester Lancs England M13 0JH er M13 0JH, Lancs, England St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England St MarysHosp Manchester Lancs England M13 0JH er M13 0JH, Lancs, England Manchester Royal Eye Hosp, Univ Dept Ophthalmol, Manchester M13 9WH, Lancs, England Manchester Royal Eye Hosp Manchester Lancs England M13 9WH Lancs, England
Titolo Testata:
LANCET
fascicolo: 9232, volume: 356, anno: 2000,
pagine: 830 - 832
SICI:
0140-6736(20000902)356:9232<830:SMIMAA>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
RETT-SYNDROME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
5
Recensione:
Indirizzi per estratti:
Indirizzo: Clayton-Smith, J St Marys Hosp, Univ Dept Med Genet, Manchester M13 0JH, Lancs, England St Marys Hosp Manchester Lancs England M13 0JH , England
Citazione:
J. Clayton-Smith et al., "Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males", LANCET, 356(9232), 2000, pp. 830-832

Abstract

Rett syndrome is a cause of severe learning disability in girls and is associated with a characteristic history and movement disorder. it is an X-linked dominant condition associated with mutations of the MECP2 gene on the distal part of the X-chromosome. If present in a male conceptus, the mutation is usually lethal. We present evidence to show that males can be affectedby Rett syndrome. In the boy presented, this situation came about because cells containing the MECP2 mutation existed alongside a normal cell line. Somatic mosaicism could explain the occurrence of other X-linked dominant disorders in males, when they would normally be lethal.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/02/20 alle ore 07:30:58