Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome-Reference-Cited by-同舟云学术

Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome

Published:2019-01-22 Issue:2 Volume:17 Page:295-305
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J Thromb Haemost

Author:

Zwifelhofer N. M. J.¹^ORCID,Bercovitz R. S.²³,Weik L. A.⁴,Moroi A.¹,LaRose S.¹,Newman P. J.¹⁵,Newman D. K.¹⁶⁷

Affiliation:

1. Blood Research Institute BloodCenter of Wisconsin – part of Versiti Milwaukee WIUSA

2. Ann & Robert H. Lurie Children's Hospital of ChicagoChicago IL USA

3. Department of Pediatrics Division of Hematology and Oncology Feinberg School of Medicine Northwestern University Chicago ILUSA

4. Children's Hospital of WisconsinMilwaukee WI USA

5. Department of Cell Biology, Neurobiology & Anatomy Medical College of WisconsinMilwaukee WI USA

6. Department of Pharmacology & Toxicology Medical College of WisconsinMilwaukee WI USA

7. Department of Microbiology & Immunology Medical College of Wisconsin Milwaukee WI USA

Funder

National Heart, Lung, and Blood Institute

Children's Hospital of Wisconsin

Hemostasis and Thrombosis Research Society

Medical College of Wisconsin

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.14357

Reference72 articles.

1. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

2. The 22q11 deletion syndromes

3. Chromosomal microdeletions: dissecting del22q11 syndrome

4. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes

5. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome

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1. Platelet changes and bleeding symptoms in children, adolescents, and adults with 22q11.2 deletion syndrome;Pediatric Blood & Cancer;2024-09-03

2. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome;Genetics in Medicine;2023-03

3. Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha ( GP1BA ) and glycoprotein Ib platelet subunit beta ( GP1BB ) genes responsible for constitutional thrombocytopenia;British Journal of Haematology;2022-09-29

4. Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression;Clinical Genetics;2022-09-16

5. Platelet findings in 22q11.2 Deletion Syndrome correlate with disease manifestations but do not correlate with GP1b surface expression;2022-06-14