Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I ( <i>TUBB</i> ) variant-Reference-Cited by-同舟云学术

Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I ( TUBB ) variant

Published:2022-10-07 Issue:2 Volume:200 Page:222-228
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Shah Yash B.¹²,Lin Ping¹³,Chen Stone³,Zheng Alan³,Alcaraz Wendy⁴,Towne Meghan C.⁴,Gabriel Courtney³,Bhoj Elizabeth J.⁵,Lambert Michele P.⁶^ORCID,Olson Timothy S.¹⁷,Frank Dale M.⁸,Ellis Colin A.⁹,Babushok Daria V.¹³^ORCID

Affiliation:

1. Comprehensive Bone Marrow Failure Center Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Sidney Kimmel Medical College Thomas Jefferson University Philadelphia Pennsylvania USA

3. Division of Hematology‐Oncology, Department of Medicine Hospital of the University of Pennsylvania Philadelphia Pennsylvania USA

4. Ambry Genetics Aliso Viejo California USA

5. Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

6. Division of Hematology, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

7. Division of Oncology, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

8. Department of Pathology and Laboratory Medicine University of Pennsylvania Philadelphia Pennsylvania USA

9. Department of Neurology University of Pennsylvania Philadelphia Pennsylvania USA

Funder

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.18491

Reference38 articles.

1. Inherited bone marrow failure syndromes in adolescents and young adults

2. Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies

3. Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes

4. Germline predisposition to hematopoietic malignancies

5. Mutation of the β1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

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