A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome-Reference-Cited by-同舟云学术

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome

Published:2017-04-03 Issue:5 Volume:173 Page:1287-1293
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zarrei Mehdi¹,Merico Daniele²,Kellam Barbara¹,Engchuan Worrawat¹,Scriver Tara³,Jokhan Rikash⁴,Wilson Michael D.⁵⁶,Parr Jeremy⁷,Lemire Edmond G.⁸,Stavropoulos Dimitri J.⁹,Scherer Stephen W.¹⁶^ORCID

Affiliation:

1. The Centre for Applied Genomics and Program in Genetics and Genome BiologyThe Hospital for Sick ChildrenTorontoOntarioCanada

2. Deep Genomics Inc.TorontoOntarioCanada

3. Royal University HospitalSaskatoonSaskatchewanCanada

4. Yorkton Regional Health CenterYorktonSaskatchewanCanada

5. Genetics and Genome BiologyThe Hospital for Sick ChildrenTorontoOntarioCanada

6. Department of Molecular Genetics and McLaughlin CentreUniversity of TorontoTorontoOntarioCanada

7. Institute of NeuroscienceNewcastle UniversityNewcastle Upon TyneUK

8. Department of Pediatrics, Royal University HospitalUniversity of SaskatchewanSaskatoonSaskatchewanCanada

9. Department of Pediatric Laboratory Medicine, Cytogenetics LaboratoryThe Hospital for Sick ChildrenTorontoOntarioCanada

Funder

Genome Canada

Ontario Genomics Institute

Canada Foundation for Innovation

Canadian Institute for Advanced Research

Canadian Institutes of Health Research

Hospital for Sick Children

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38176

Reference38 articles.

1. Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence

2. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

3. Mouse genome database 2016

4. An integrated encyclopedia of DNA elements in the human genome

5. Topological domains in mammalian genomes identified by analysis of chromatin interactions

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