Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and Sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene
Autore:
Lowry, RB; Jabs, EW; Graham, GE; Gerritsen, J; Fleming, J;
Indirizzi:
Childrens Hosp, Dept Med Genet, Calgary, AB T2T 5C7, Canada Childrens Hosp Calgary AB Canada T2T 5C7 net, Calgary, AB T2T 5C7, Canada Univ Calgary, Calgary, AB, Canada Univ Calgary Calgary AB CanadaUniv Calgary, Calgary, AB, Canada Johns Hopkins Univ, Inst Genet Med, Dept Pediat, Baltimore, MD USA Johns Hopkins Univ Baltimore MD USA Med, Dept Pediat, Baltimore, MD USA Johns Hopkins Univ, Inst Genet Med, Dept Med, Baltimore, MD USA Johns Hopkins Univ Baltimore MD USA net Med, Dept Med, Baltimore, MD USA Johns Hopkins Univ, Inst Genet Med, Dept Plast Surg, Baltimore, MD USA Johns Hopkins Univ Baltimore MD USA , Dept Plast Surg, Baltimore, MD USA Pacific Hlth Ltd, Tauranga, New Zealand Pacific Hlth Ltd Tauranga New Zealand c Hlth Ltd, Tauranga, New Zealand
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 2, volume: 104, anno: 2001,
pagine: 112 - 119
SICI:
0148-7299(20011122)104:2<112:SOCCKA>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3;
Keywords:
coronal craniosynostosis; fibroblast growth factor receptor 3 (FGFR3); brachydactyly; carpal/tarsal coalition; Klippel-Feil anomaly; Sprengel shoulder; deafness;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Lowry, RB Childrens Hosp, Dept Med Genet, 1820 Richmond Rd SW, Calgary, ABT2T 5C7, Canada Childrens Hosp 1820 Richmond Rd SW Calgary AB Canada T2T 5C7 ada
Citazione:
R.B. Lowry et al., "Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and Sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene", AM J MED G, 104(2), 2001, pp. 112-119

Abstract

A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al. [1996: Nat Genet 14:174-176]and the phenotype subsequently by Muenke et al. [1997: Am J Hum Genet 60:555-564], Reardon et al. [1997: J Med Genet 34:632-636], and Graham et al. [1998: Am J Med Genet 77:322-329]. These authors emphasized the pleiotropic nature of this form of coronal craniosynostosis, including brachydactyly with carpal and/ or tarsal coalitions, with other anomalies at lower frequency. We report on a family with autosomal dominant coronal synostosis, segmentation and fusion anomalies of the vertebra and ribs, and Sprengel shoulderdue to the Pro250Arg mutation. We also report a single case with an identical phenotype without the mutation. (C) 2001 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 08:08:27