Cohen MM Jr. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2005 May-Jun:8(3):287-304[PubMed PMID: 16010495] Level ...
Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder, typically presenting in early childhood and caused by deregulation of imprinted genes. The clinical presentation is now recognized to be highly variable, but when originally and independently described in the 1960s by Drs. Beckwith and Wied...
Beckwith–Wiedemann syndrome (BWS) is a representative imprinting disorder characterized by macrosomia, macroglossia and abdominal wall defects, and exhibits a predisposition to tumorigenesis. The relevant imprinted chromosomal region in BWS is 11p15.5, which consists of two imprinting domains, IGF2/H19...
Introduction: Beckwith–Wiedemann syndrome (BWS) is a pediatric overgrowth disorder presents with classical features of exomphalos, macroglossia, and gigantism. Estimated incidence rate of Beckwith wiedemann syndrome is 1 in 13,700 in population. The incidence of BWS is equal in males and females.Pr...
5 Choufani S, Shuman C, Weksberg R: Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2010; 154C: 343–354. 6 Scott RH, Douglas J, Baskcomb L et al: Methylation-specific multiplex ligation- dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 ...
Cardiac involvement in Beckwith-Wiedemann syndrome is mostly limited to mild cardiomegaly. Although these patients have visceromegaly, macroglossia, gigant... S Kapur,KS Kuehl,FM Midgely,... - 《Pediatric Pathology》 被引量: 22发表: 1985年 Focal Giant Cell Cardiomyopathy with Beckwith-Wiedemann...
Cohen, M.M. Beckwith-Wiedemann Syndrome: Historical, Clinicopathological, and Etiopathogenetic Perspectives.Pediatr Dev Pathol8, 287–304 (2005). https://doi.org/10.1007/s10024-005-1154-9 Download citation Received26 January 2005 Accepted07 February 2005 ...
7 Baskin B, Choufani S, Chen YA et al: High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome. Hum Genet 2014; 133: 321–330. 8 Gurrieri F, Zollino M, Oliva A et al: Mild Beckwith–Wiedemann and severe long-QT ...
Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is a congenital epigenetic overgrowth disorder with tumor predisposition caused by an abnormal expression or function of imprinted genes of the chromosome 11p15.5 imprinting gene cluster. It is characterized by a spectrum of clinical features, including macr...