Haploinsufficiency of BCL 11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome-Reference-Cited by-同舟云学术

Haploinsufficiency of BCL 11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

Published:2017-05-22 Issue:4 Volume:5 Page:429-437
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Shimbo Hiroko¹^ORCID,Yokoi Takayuki²,Aida Noriko³,Mizuno Seiji⁴,Suzumura Hiroshi⁵,Nagai Junichi⁶,Ida Kazumi²,Enomoto Yumi¹,Hatano Chihiro²,Kurosawa Kenji²

Affiliation:

1. Clinical Research Institute Kanagawa Children's Medical Center Yokohama Japan

2. Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan

3. Division of Radiology Kanagawa Children's Medical Center Yokohama Japan

4. Department of Pediatrics Aichi Human Service Center Central Hospital Kasugai Japan

5. Department of Pediatrics Dokkyo Medical University School of Medicine Tochigi Japan

6. Laboratory Medicine Kanagawa Children's Medical Center Yokohama Japan

Funder

Ministry of Health, Labour and Welfare

Core Research for Evolutional Science and Technology

Japan Science and Technology Agency

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.289

Reference32 articles.

1. Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis;Bagheri H.;JCI Insight,2016

2. Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A

3. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

4. The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15

5. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

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