Clinical utility gene card for: Beckwith-Wiedemann Syndrome

被引：46

作者：

Eggermann, Thomas ^{[1
]}

Algar, Elizabeth ^{[2
]}

Lapunzina, Pablo ^{[3
]}

Mackay, Deborah ^{[4
]}

Maher, Eamonn R. ^{[5
]}

Mannens, Marcel ^{[6
]}

Netchine, Irene ^{[7
]}

Prawitt, Dirk ^{[8
]}

Riccio, Andrea ^{[9
]}

Temple, I. Karen ^{[10
]}

Weksberg, Rosanna ^{[11
,12
,13
]}

机构：

[1] Rhein Westfal TH Aachen, Dept Human Genet, Univ Hosp, D-52076 Aachen, Germany

[2] Monash Med Ctr, Dept Genet & Mol Pathol, Clayton, Vic 3168, Australia

[3] Hosp Univ La Paz, CIBERER, IdiPAZ, INGEMM,Inst Genet Med Mol,ISCII, Madrid, Spain

[4] Univ Southampton, Salisbury Hlth Care Trust, Wessex Reg Genet Lab, Dept Epigenet,Fac Med, Salisbury, Wilts, England

[5] Univ Cambridge, Sch Clin, Addenbrookes Hosp Treatment Ctr, Dept Med Genet, Cambridge, England

[6] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

[7] Univ Paris 06, INSERM, U938, Hop Trousseau, Paris, France

[8] Univ Med Ctr, Ctr Paediat & Adolescent Med, Mainz, Germany

[9] Univ Naples 2, Inst Genet & Biophys ABT, Naples, Italy

[10] Univ Southampton, Princess Anne Hosp, Wessex Clin Genet Serv, Dept Human Genet & Genom Med,Fac Med, Southampton, Hants, England

[11] Univ Toronto, Dept Paediat, Toronto, ON M5S 1A1, Canada

[12] Univ Toronto, Hosp Sick Children, Genome Biol Program, Toronto, ON M5G 1X8, Canada

[13] Univ Toronto, Inst Med Sci, Toronto, ON, Canada

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2014年 / 22卷 / 03期

关键词：

PATERNAL UNIPARENTAL DISOMY; SYNDROME BWS; TUMOR RISK; PHENOTYPE; METHYLATION; CDKN1C; HYPOMETHYLATION; MOSAICISM; MUTATIONS; KCNQ1OT1;

D O I：

10.1038/ejhg.2013.132

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

[No abstract available]

引用

页码：435 / 435

页数：4

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