Heterozygous loss-of-function ACTB mutations result in a novel developmental syndrome

被引：0

作者：

Cuvertino, S. ^{[1
]}

Stuart, H. ^{[1
,2
]}

Chandler, K. E. ^{[2
]}

Roberts, N. A. ^{[1
]}

Armstrong, R. ^{[3
]}

Bernardini, L. ^{[4
]}

Bhaskar, S. ^{[2
]}

Callewaert, B. ^{[5
]}

Clayton-Smith, J. ^{[1
,2
]}

Davalillo, C. H. ^{[6
]}

Deshpande, C. ^{[7
]}

Devriendt, K. ^{[8
,9
]}

Digilio, M. C. ^{[10
]}

Dixit, A. ^{[11
]}

Edwards, M. ^{[12
]}

Friedman, J. M. ^{[13
]}

Joss, S. ^{[14
]}

Kerr, B. ^{[2
]}

Lampe, A. K. ^{[15
]}

McGowan, R. ^{[14
]}

Medt, M. D. ^{[8
,9
]}

O'Sullivan, J. ^{[2
]}

Odent, S. ^{[16
]}

Parker, M. J. ^{[17
]}

Pebrel-Richard, C. ^{[18
]}

Petit, F. ^{[19
]}

Stark, Z. ^{[20
]}

Tinschert, S. ^{[21
]}

Vasudevan, P. ^{[22
]}

Villa, O. ^{[6
]}

White, M. ^{[20
,23
]}

Zahir, F. ^{[13
,24
]}

Lennon, R. ^{[1
]}

Woolf, A. S. ^{[1
]}

Banka, S. ^{[1
,2
]}

机构：

[1] Univ Manchester, Manchester, Lancs, England

[2] St Marys Hosp, Manchester, Lancs, England

[3] Addenbrookes Hosp, Cambridge, England

[4] Mendel Lab, Rome, Italy

[5] Ghent Univ Hosp, Ghent, Belgium

[6] Quantitat Genom Med Labs, Barcelona, Spain

[7] Guys Hosp, London, England

[8] Katholieke Univ Leuven, Leuven, Belgium

[9] Univ Hosp Leuven, Leuven, Belgium

[10] IRCCS Osped Pediat Bambino Gesu, Rome, Italy

[11] Nottingham City Hosp, Nottingham, England

[12] Univ Western Sydney, Sydney, NSW, Australia

[13] Univ British Columbia, Vancouver, BC, Canada

[14] Queen Elizabeth Univ Hosp, Glasgow, Lanark, Scotland

[15] Western Gen Hosp, Edinburgh, Midlothian, Scotland

[16] Hop SUD, Rennes, France

[17] Sheffield Childrens NHS Fdn Trust, Sheffield, S Yorkshire, England

[18] CHU Clermont Ferrand, Clermont Ferrand, France

[19] CHU Lille, Lille, France

[20] Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[21] Med Univ Innsbruck, Innsbruck, Austria

[22] Leicester Royal Infirm, Leicester, Leics, England

[23] Univ Melbourne, Melbourne, Vic, Australia

[24] Hamad Bin Khalifa Univ, Doha, Qatar

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷

关键词：

D O I：

暂无

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：

C20.2

引用

页码：99 / 100

页数：2

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