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Syndromes / Genetics / Rare diseases / Notch-2 / Protein domains / Notch signaling pathway / Hajdu–Cheney syndrome / EGF-like domain / Exome sequencing / Biology / Health / Medicine


b r i e f c o m m u n i c at i o n s © 2011 Nature America, Inc. All rights reserved. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a
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Document Date: 2012-07-05 15:59:45


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City

Harrow / NOTCH2 cDNA / Oxford / Madison / Auckland / Dunedin / Prague / São Paulo / London / Lille / Chicago / /

Company

GenBank / Chong Ae / K.H.K. S.A. / M.A.S. / Nature America Inc. / M.D.I. / /

Country

New Zealand / France / United States / Brazil / United Kingdom / Czech Republic / /

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Facility

Churchill Hospital / Guy’s Hospital / College Hospital NHS Foundation Trust / National Institute / King’s College / Bartholomew’s Hospital / Children’s Memorial Hospital / University of London / University of Wisconsin-Madison / /

IndustryTerm

protein product / ONLINE PUBLICATION / aDVANCE ONLINE PUBLICATION / acceptor splice site / /

MedicalCondition

common metabolic bone disease / Hajdu-Cheney syndrome / autosomal dominant multisystem disorder / Hajdu-Cheney syndrome ALGS / severe and progressive osteoporosis / disorder / typically vertebral deformities / sporadic disease / disease / acro-osteolysis / monogenic disorder / NOTCH2 cause Hajdu-Cheney syndrome / monogenic disorders / Osteoporosis / generalized osteoporosis / novo renal cysts / renal cysts / /

Organization

Division of Genetics / Churchill Hospital / King’s College London School of Medicine / Guy’s Hospital / King’s College London / Children’s Memorial Hospital / Northwestern University Feinberg School of Medicine / National Institute for Health Research / 11Genetics Unit / Dunedin School of Medicine / British Heart Foundation / University of London / London / Biomedical Research Centre / Centre for Patients / Department of Health / National Health Service / University of Wisconsin / /

Person

I. Marik / /

Position

Chief / AUTHOR / King / reporter / /

ProvinceOrState

Wisconsin / New Brunswick / Illinois / /

PublishedMedium

Nature Genetics / /

Region

West Thames / /

Technology

hybridization / /

URL

http /

SocialTag