Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease-Reference-Cited by-同舟云学术

Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

Published:2015-05-10 Issue:5 Volume:3 Page:413-423
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Chopra Sameer S.¹,Leshchiner Ignaty²,Duzkale Hatice³⁴⁵,McLaughlin Heather⁵,Giovanni Monica⁶,Zhang Chengsheng⁷,Stitziel Nathan⁸,Fingeroth Joyce⁹,Joyce Robin M.¹⁰,Lebo Matthew⁵,Rehm Heidi⁵,Vuzman Dana¹¹,Maas Richard¹¹,Sunyaev Shamil R.¹¹,Murray Michael⁶,Cassa Christopher A.¹¹,

Affiliation:

1. Dana Farber Cancer Institute Brigham and Women's Hospital Boston Massachusetts

2. Broad Institute Brigham and Women's Hospital Cambridge Massachusetts

3. Department of Medical Genetics Yeditepe University School of Medicine Istanbul Turkey

4. Genetic Training Program Harvard Medical School Boston Massachusetts

5. Partners Healthcare Center for Personalized Medicine Cambridge Massachusetts

6. Geisinger Genomic Medicine Center Geisinger Medical Center Danville Pennsylvania

7. The Jackson Laboratory for Genomic Medicine Farmington Connecticut

8. Cardiovascular Division Washington University School of Medicine St. Louis Missouri

9. University of Massachusetts Medical School Worchester Massachusetts

10. Beth Israel Deaconess Medical Center Boston Massachusetts

11. Division of Genetics Department of Medicine Brigham and Women's Hospital Harvard Medical School Boston Massachusetts

Funder

NIH

Dana-Farber Leadership Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.152

Reference35 articles.

1. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene

2. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy

3. Accurate whole human genome sequencing using reversible terminator chemistry

4. Malignant B-cell lymphoma in an infant with severe combined immunodeficiency with short-limbed skeletal dysplasia

5. A framework for variation discovery and genotyping using next-generation DNA sequencing data

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