Identification and characterisation of novel HMGA2 variants expand the clinical spectrum of Silver-Russell syndrome

被引：0

作者：

Maharaj, Avinaash Vickram ^{[1
]}

Cottrell, Emily ^{[1
]}

Thanasupawat, Thatchawan ^{[2
]}

Joustra, Sjoerd D. ^{[3
]}

Triggs-Raine, Barbara ^{[4
]}

Fujimoto, Masanobu ^{[5
]}

Kant, Sarina G. ^{[3
]}

van der Kaay, Danielle ^{[6
]}

Boers, Agnes Clement-de ^{[7
]}

Brooks, A. S. ^{[8
]}

Aguirre, Gabriel Amador ^{[9
]}

del Estal, Irene Martin ^{[9
]}

Larrea, Maria Inmaculada Castilla de Cortazar ^{[9
]}

Massoud, Ahmed ^{[10
]}

Van Duyvenvoorde, Hermine A. ^{[11
]}

De Bruin, Christiaan ^{[3
]}

Hwa, Vivian ^{[5
]}

Klonisch, Thomas ^{[2
,12
,13
,14
]}

Hombach-Klonisch, Sabine ^{[2
,12
]}

Storr, Helen L. ^{[1
]}

机构：

[1] William Harvey Res Inst, Ctr Endocrinol, London, England

[2] Univ Manitoba, Dept Human Anat & Cell Sci, Winnipeg, MB, Canada

[3] Leiden Univ, Willem Alexander Childrens Hosp, Div Paediat Endocrinol, Dept Paediat,Med Ctr, Leiden, Netherlands

[4] Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB, Canada

[5] Univ Cincinnati, Cincinnati Childrens Hosp, Div Endocrinol, Dept Pediat,Cincinnati Ctr Growth Disorders,Med C, Cincinnati, OH USA

[6] Erasmus Univ, Sophia Childrens Hosp, Div Paediat Endocrinol, Dept Paediat,Med Ctr, Rotterdam, Netherlands

[7] Juliana Childrens Hosp, Dept Paediat, Haga Teaching Hosp, The Hague, Netherlands

[8] Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands

[9] TEC Monterrey, CITES Escuela Nacl Med, Ave Morones Prieto 3000 Pte Col Doctores 64710, Monterrey, Mexico

[10] HCA Healthcare UK, Dept Paediat & Child Hlth, London, England

[11] Leiden Univ, Dept Clin Genet, Lab Diagnost Genome Anal LDGA, Med Ctr, Leiden, Netherlands

[12] Univ Manitoba, Dept Pathol, Winnipeg, MB, Canada

[13] Univ Manitoba, Dept Surg, Winnipeg, MB, Canada

[14] Univ Manitoba, Dept Med Microbiol & Infect Dis, Winnipeg, MB, Canada

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2023年 / 96卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

P1-507

引用

页码：330 / 330

页数：1

共 50 条

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