Clinical utility gene card for: Cornelia de Lange syndrome

被引：32

作者：

Ramos, Feliciano J. ^{[1
,2
,3
]}

Puisac, Beatriz ^{[2
,3
]}

Baquero-Montoya, Carolina ^{[4
]}

Concepcion Gil-Rodriguez, Ma ^{[2
,3
]}

Bueno, Ines ^{[1
]}

Deardorff, Matthew A. ^{[5
]}

Hennekam, Raoul C. ^{[6
]}

Kaiser, Frank J. ^{[7
]}

Krantz, Ian D. ^{[8
]}

Musio, Antonio ^{[9
]}

Selicorni, Angelo ^{[10
]}

FitzPatrick, David R. ^{[11
]}

Pie, Juan ^{[2
,3
]}

机构：

[1] Univ Zaragoza, CIBERER GCV & IIS Aragon, Sch Med, Clin Genet Unit,Serv Paediat,Univ Hosp Lozano Ble, E-50009 Zaragoza, Spain

[2] Univ Zaragoza, CIBERER GCV & IIS Aragon, Sch Med, Unit Clin Genet & Funct Genom,Dept Pharmacol Phys, E-50009 Zaragoza, Spain

[3] Univ Zaragoza, CIBERER GCV & IIS Aragon, Sch Med, Unit Clin Genet & Funct Genom,Dept Paediat, E-50009 Zaragoza, Spain

[4] Hosp Pablo Tobon Uribe, Dept Paediat, Medellin, Colombia

[5] Univ Penn, Childrens Hosp Philadelphia, Dept Paediat, Perelman Sch Med, Philadelphia, PA 19104 USA

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

[7] Med Univ Lubeck, Inst Humangenet, Sekt Funkt Genet, D-23538 Lubeck, Germany

[8] Univ Penn, Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

[9] CNR, Ist Ric Genet & Biomed, I-56100 Pisa, Italy

[10] Univ Milano Bicocca, San Gerardo Hosp, MBBM Fdn, Pediat Genet Clin Unit, Monza, Italy

[11] Univ Edinburgh, MRC, Human Genet Unit, IGMM, Edinburgh, Midlothian, Scotland

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2015年 / 23卷 / 10期

基金：

英国医学研究理事会;

关键词：

COFFIN-SIRIS SYNDROME; GENOTYPE-PHENOTYPE; GERMLINE MOSAICISM; HDAC8; MUTATIONS; RAD21; NIPBL; INDIVIDUALS; SPECTRUM; SMC1A; VARIANT;

D O I：

10.1038/ejhg.2014.270

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：

引用

页码：1431 / 1431

页数：4

共 26 条

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