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Titolo:
Molecular genetics in pediatric dermatology
Autore:
Parisi, MA; Sybert, VP;
Indirizzi:
Univ Washington, Dept Med, Div Dermatol, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 Div Dermatol, Seattle, WA 98195 USA Childrens Hosp, Dept Pediat, Div Genet & Dev, Seattle, WA USA Childrens Hosp Seattle WA USA t Pediat, Div Genet & Dev, Seattle, WA USA Reg Med Ctr, Seattle, WA USA Reg Med Ctr Seattle WA USAReg Med Ctr, Seattle, WA USA
Titolo Testata:
CURRENT OPINION IN PEDIATRICS
fascicolo: 4, volume: 12, anno: 2000,
pagine: 347 - 353
SICI:
1040-8703(200008)12:4<347:MGIPD>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
TUBEROUS SCLEROSIS COMPLEX; BANNAYAN-ZONANA-SYNDROME; RILEY-RUVALCABA-SYNDROME; NEUROFIBROMATOSIS TYPE-1 GENE; EPIDERMOLYSIS-BULLOSA; COWDEN-SYNDROME; DIAGNOSTIC EVALUATION; CONSENSUS CONFERENCE; GERMLINE MUTATIONS; PYLORIC ATRESIA;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
59
Recensione:
Indirizzi per estratti:
Indirizzo: Sybert, VP Univ Washington, Dept Med, Div Dermatol, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 ol, Seattle, WA 98195 USA
Citazione:
M.A. Parisi e V.P. Sybert, "Molecular genetics in pediatric dermatology", CURR OP PED, 12(4), 2000, pp. 347-353

Abstract

The field of pediatric dermatology continues to be enriched by the insights offered through molecular genetics. For some genetic skin disorders, including neurofibromatosis, tuberous sclerosis complex, and several forms of epidermolysis bullosa, genetic research has resulted in an evolving understanding of the relationship between genotype and phenotype, with the ability to predict some of the features of these disorders on the basis of the genetic defect, However, widespread use of molecular genetics for diagnostic testing of these disorders has not been possible because of genetic heterogeneity, limited availability, and reduced sensitivity, The appropriate use ofgenetic services is emphasized in this, the molecular era, Curr Opin Pediatr 2000, 12:347-353 (C) 2000 Lippincott Williams & Wilkins, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/09/20 alle ore 23:46:37