Weaver syndrome and defective cortical development: A rare association

被引：19

作者：

Al-Salem, Ahmed ^{[1
,2
]}

Alshammari, Muneera J. ^{[1
,3
,4
]}

Hassan, Hamdy ^{[4
,5
]}

Alazami, Anas M. ^{[1
]}

Alkuraya, Fowzan S. ^{[1
,3
,4
,6
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

[2] King Abdul Aziz Med City, Dept Med, Riyadh, Saudi Arabia

[3] King Saud Univ, Dept Pediat, King Khalid Univ Hosp, Riyadh, Saudi Arabia

[4] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia

[5] King Saud Univ, Dept Radiol, King Khalid Univ Hosp, Riyadh 11461, Saudi Arabia

[6] Alfaisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh, Saudi Arabia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161A卷 / 01期

关键词：

weaver syndrome; pachygyria; polymicrogyria; EZH2; de novo; EZH2; MUTATIONS; SOTOS;

D O I：

10.1002/ajmg.a.35660

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：225 / 227

页数：3

共 16 条

[1] A developmental and genetic classification for malformations of cortical development: update 2012 [J].

Barkovich, A. James ;

Guerrini, Renzo ;

Kuzniecky, Ruben I. ;

Jackson, Graeme D. ;

Dobyns, William B. .

BRAIN, 2012, 135 :1348-1369

[2] Acute Lymphoblastic Leukemia in Weaver Syndrome [J].

Basel-Vanagaite, Lina .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (02) :383-386

[3] The Polycomb EA2 methyltransferase regulates muscle gene expression and skeletal muscle differentiation [J].

Caretti, G ;

Di Padova, M ;

Micales, B ;

Lyons, GE ;

Sartorelli, V .

GENES & DEVELOPMENT, 2004, 18 (21) :2627-2638

[4]

Freeman BM, 1999, AM J MED GENET, V86, P395, DOI 10.1002/(SICI)1096-8628(19991008)86:4<395::AID-AJMG16>3.3.CO

[5]

2-C

[6] Mutations in EZH2 Cause Weaver Syndrome [J].

Gibson, William T. ;

Hood, Rebecca L. ;

Zhan, Shing Hei ;

Bulman, Dennis E. ;

Fejes, Anthony P. ;

Moore, Richard ;

Mungall, Andrew J. ;

Eydoux, Patrice ;

Babul-Hirji, Riyana ;

An, Jianghong ;

Marra, Marco A. ;

Chitayat, David ;

Boycott, Kym M. ;

Weaver, David D. ;

Jones, Steven J. M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (01) :110-118

[7] The Polycomb complex PRC2 and its mark in life [J].

Margueron, Raphael ;

Reinberg, Danny .

NATURE, 2011, 469 (7330) :343-349

[8]

Opitz JM, 1998, AM J MED GENET, V79, P294, DOI 10.1002/(SICI)1096-8628(19981002)79:4<294::AID-AJMG12>3.0.CO

[9]

2-M

[10]

Proud VK, 1998, AM J MED GENET, V79, P305, DOI 10.1002/(SICI)1096-8628(19981002)79:4<305::AID-AJMG13>3.0.CO

← 1 2 →