HETEROZYGOUS VARIANTS IN KINASE DOMAIN OF NEK8 CAUSE AN AUTOSOMAL-DOMINANT CILIOPATHY

被引：0

作者：

Claus, Laura ^{[1
]}

Stallworth, Jennifer ^{[2
]}

van Jaarsveld, Richard ^{[1
]}

Turner, Joshu ^{[3
]}

Hawks, Alexandra ^{[3
]}

May, Melanie ^{[2
]}

Flanagan-Steet, Heather ^{[2
]}

Louie, Raymond ^{[2
]}

Silver, Josh ^{[4
,5
]}

Lerner-Ellise, Jordan ^{[6
]}

Morel, Chantal ^{[4
,7
,8
]}

Mighton, Chloe ^{[7
,9
]}

Ziegler, Alban ^{[10
]}

Barakat, Stefan ^{[11
]}

Dahan, Karin ^{[12
,13
]}

Demoulin, Nathalie ^{[14
]}

Goffin, Eric Jean ^{[14
]}

Larsen, Martin ^{[15
]}

Hertz, Jens Michael ^{[15
]}

Lilien, Marc ^{[16
]}

Olinger, Eric ^{[17
]}

Sayer, John ^{[17
]}

Obeidova, Lena ^{[18
,19
]}

Seeman, Tomas ^{[20
]}

Senum, Sarah ^{[20
,21
]}

Hanna, Christian ^{[21
,22
]}

Rogers, Curtis ^{[2
]}

Duran, Karen ^{[1
]}

Peters, Edith ^{[1
]}

Harris, Peter ^{[21
]}

Mason, Jennifer ^{[3
]}

van Haaften, Gijs ^{[1
]}

Van Eerde, Albertien M. ^{[1
]}

Steet, Richard

机构：

[1] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands

[2] Greenwood Genet Ctr, Greenwood, SC 29646 USA

[3] Clemson Univ, Dept Genet & Biochem, Clemson, SC USA

[4] Fred A Litwin Family Ctr Genet Med, Toronto, ON, Canada

[5] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

[6] Mt Sinai Hosp, Pathol & Lab Med, Toronto, ON, Canada

[7] Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada

[8] Univ Toronto, Dept Med, Toronto, ON, Canada

[9] Mt Sinai Hosp, Dept Pathol & Lab Med, Toronto, ON, Canada

[10] Univ Hosp Angers, Dept Genet, Angers, France

[11] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

[12] Ctr Human Genet, Inst Pathol & Genet, Charleroi, Belgium

[13] Catholic Univ Louvain, Med Sch, Div Nephrol, Brussels, Belgium

[14] Clin Univ St Luc UCLouvain, Dept Nephrol, Brussels, Belgium

[15] Odense Univ Hosp, Dept Clin Genet, Odense, Denmark

[16] Wilhelmina Childrens Hosp WKZ, Dept Pediat Nephrol, Utrecht, Netherlands

[17] Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England

[18] Charles Univ Prague, Inst Biol & Med Genet, Prague, Czech Republic

[19] Gen Univ Hosp Prague, Prague, Czech Republic

[20] Ludwig Maximilian Univ Munchen, Dr Haunersches Kinderspital Kinderklin & Kinderpo, Munich, Germany

[21] Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USA

[22] Mayo Clin, Div Pediat Nephrol & Hypertens, Rochester, MN USA

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2022年 / 37卷

关键词：

D O I：

暂无

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

1001 ; 1002 ; 100602 ;

摘要：

FC 044

引用

页码：I809 / I810

页数：2

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