Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Author:

Martin Carol-Anne,Sarlós Kata,Logan Clare V.,Thakur Roshan Singh,Parry David A.,Bizard Anna H.,Leitch Andrea,Cleal Louise,Ali Nadia Shaukat,Al-Owain Mohammed A.,Allen William,Altmüller Janine,Aza-Carmona Miriam,Barakat Bushra A.Y.,Barraza-García Jimena,Begtrup Amber,Bogliolo Massimo,Cho Megan T.,Cruz-Rojo Jaime,Dhahrabi Hassan Ali Mundi,Elcioglu Nursel H.,Gorman Gráinne S.,Jobling Rebekah,Kesterton Ian,Kishita Yoshihito,Kohda Masakazu,Le Quesne Stabej Polona,Malallah Asam Jassim,Nürnberg Peter,Ohtake Akira,Okazaki Yasushi,Pujol Roser,Ramirez Maria José,Revah-Politi Anya,Shimura Masaru,Stevens Paul,Taylor Robert W.,Turner Lesley,Williams Hywel,Wilson Carolyn,Yigit Gökhan,Zahavich Laura,Alkuraya Fowzan S.,Surralles Jordi,Iglesias Alejandro,Murayama Kei,Wollnik Bernd,Dattani Mehul,Heath Karen E.,Hickson Ian D.,Jackson Andrew P.

Funder

European Research Council

MRC Human Genetics Unit

Danish National Research Foundation

Danish Cancer Society

Ministerio de Economía y Competitividad

Institució Catalana de Recerca i Estudis Avançats

MINECO

European Commission

Fondo Europeo de Desarrollo Regional “Una Manera de Hacer Europa

Centro de Investigación Biomédica en Red de Enfermedades Raras

Wellcome Centre for Mitochondrial Research

MRC

National Health Service

German Federal Ministry of Education and Research

E-Rare network EuroMicro

German Research Foundation

Japan Agency for Medical Research and Development

Great Ormond Street Hospital Children’s Charity

NIHR Great Ormond Street Hospital Biomedical Research Centre

NIH National Center for Advancing Translational Sciences

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference42 articles.

1. Mechanisms and pathways of growth failure in primordial dwarfism;Klingseisen;Genes Dev.,2011

2. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity;Bloom;AMA Am. J. Dis. Child.,1954

3. Bloom’s syndrome. XX. The first 100 cancers;German;Cancer Genet. Cytogenet.,1997

4. A manyfold increase in sister chromatid exchanges in Bloom’s syndrome lymphocytes;Chaganti;Proc. Natl. Acad. Sci. USA,1974

5. The Bloom’s syndrome gene product is homologous to RecQ helicases;Ellis;Cell,1995

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