5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome-Reference-Cited by-同舟云学术

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5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome

Published:2021-07-28 Issue:12 Volume:185 Page:3844-3850
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Bayat Allan¹²^ORCID,Bayat Michael³,Broers Chantal⁴,Polstra Abeltje M.⁵,Zwijnenburg Petra J. G.⁵,Hjortshøj Tina Duelund⁶

Affiliation:

1. Institute for Regional Health Services University of Southern Denmark Odense Denmark

2. Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre Dianalund Denmark

3. Department of Clinical Genetics University Hospital of Aarhus Aarhus Denmark

4. Department of Pediatrics, Emma Children's Hospital Amsterdam UMC, Vrije Universiteit Amsterdam Amsterdam The Netherlands

5. Department of Clinical Genetics Amsterdam UMC Amsterdam The Netherlands

6. Department of Clinical Genetics University Hospital of Copenhagen Copenhagen Denmark

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62428

Reference17 articles.

1. Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome

2. Lipid phosphate phosphatase 3 in vascular pathophysiology

3. 5q11.2 deletion in a patient with tracheal agenesis

4. A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features

5. The Multifaceted Function of Granzymes in Sepsis: Some Facts and a Lot to Discover

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