Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes-Reference-Cited by-同舟云学术

Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes

Published:2014-06-19 Issue:25 Volume:123 Page:4002-4004
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Janczar Szymon¹,Fogtman Anna²,Koblowska Marta³,Baranska Dobromila⁴,Pastorczak Agata¹,Wegner Olga¹,Kostrzewska Magdalena¹,Laguna Pawel⁵,Borowiec Maciej¹,Mlynarski Wojciech¹^ORCID

Affiliation:

1. Department of Pediatrics, Oncology, Hematology, and Diabetology, Medical University of Lodz, Lodz, Poland

2. Laboratory for Microarray Analysis, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland

3. Faculty of Biology, University of Warsaw, Warsaw, Poland Laboratory for Microarray Analysis, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland

4. Department of Pediatric Radiology, University Hospital No 4, Lodz, Poland

5. Department of Pediatrics, Hematology and Oncology, Medical University of Warsaw, Warsaw, Poland

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/123/25/4002/1464783/4002.pdf

Reference8 articles.

1. Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.;Miskinyte;Am J Hum Genet,2011

2. Moyamoya disease associated with hemophilia A. Case report.;Matsuda;Pediatr Neurosurg,2002

3. A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors.;Fujita;J Thromb Haemost,2012