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Titolo:
Neurofibromatosis type 1: A model condition for the study of the molecularbasis of variable expressivity in human disorders
Autore:
Carey, JC; Viskochil, DH;
Indirizzi:
Univ Utah, Hlth Sci Ctr, Dept Pediat, Div Med Genet, Salt Lake City, UT 84132 USA Univ Utah Salt Lake City UT USA 84132 Genet, Salt Lake City, UT 84132 USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 89, anno: 1999,
pagine: 7 - 13
SICI:
0148-7299(19990326)89:1<7:NT1AMC>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
AU-LAIT SPOTS; FAMILIAL SPINAL NEUROFIBROMATOSIS; MALIGNANT MYELOID DISORDERS; GERM-LINE MOSAICISM; NF1 GENE DELETIONS; SOMATIC MOSAICISM; SEGMENTAL NEUROFIBROMATOSIS; DEVELOPMENTAL DELAY; WATSON SYNDROME; NOONAN-SYNDROME;
Keywords:
neurofibromatosis type 1; expressivity; genotype/phenotype correlation; heterogeneity;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
60
Recensione:
Indirizzi per estratti:
Indirizzo: Carey, JC Univ Utah, Hlth Sci Ctr, Dept Pediat, Div Med Genet, Salt Lake City, UT 84132 USA Univ Utah Salt Lake City UT USA 84132 t Lake City, UT 84132 USA
Citazione:
J.C. Carey e D.H. Viskochil, "Neurofibromatosis type 1: A model condition for the study of the molecularbasis of variable expressivity in human disorders", AM J MED G, 89(1), 1999, pp. 7-13

Abstract

Neurofibromatosis type 1 (NF1) is a pleiotropic autosomal dominant disorder with marked variability of clinical expression. As in other heritable disorders, the mapping and cloning of the gene responsible for NF1 have increased our understanding of the pathogenesis of the condition. In particular, the phenotypic variability and variable expressivity can he studied using molecular techniques. In this article we summarize the current knowledge of genotype/phenotype correlation in NF1 and examine the potential molecular basis for variable expressivity. Am. J. Med. Genet. (Semin. Med. Genet.) 89:7-13, 1999. (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 07:51:11