Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature

Author:

Alkhunaizi Ebba1ORCID,Schrewe Brett2,Alizadehfar Reza3,Vézina Catherine4,Stewart Grant S.5,Braverman Nancy1

Affiliation:

1. Department of Medical Genetics and Pediatrics; McGill University Health Centre; Montréal Quebec Canada

2. Department of Pediatrics; University of British Columbia; Vancouver British Columbia Canada

3. Department of Pediatric Allergy and Immunology; McGill University Health Centre; Montréal Quebec Canada

4. Department of Pediatric Hematology and Oncology; McGill University Health Centre; Montréal Quebec Canada

5. Institute for Cancer and Genomic Sciences; University of Birmingham; Birmingham UK

Funder

CR-UK Senior Fellowship

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. De novo del(3)(q2800);Alvarez Arratia;Annales De Genetique,1984

2. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication;Ballif;Molecular Cytogenet,2008

3. 3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients;Città;American Journal of Medical Genetics Part A,2013

4. Diamond-Blackfan anemia, ribosome and erythropoiesis;Da Costa;Transfusion Clinique Et Biologique,2010

5. Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome;Dasouki;European Journal of Medical Genetics,2014

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3