Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
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| Title: | Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant. |
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| Authors: | Shah YB; Comprehensive Bone Marrow Failure Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Lin P; Comprehensive Bone Marrow Failure Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Hematology-Oncology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Chen S; Division of Hematology-Oncology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Zheng A; Division of Hematology-Oncology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Alcaraz W; Ambry Genetics, Aliso Viejo, California, USA., Towne MC; Ambry Genetics, Aliso Viejo, California, USA., Gabriel C; Division of Hematology-Oncology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bhoj EJ; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Lambert MP; Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Olson TS; Comprehensive Bone Marrow Failure Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Frank DM; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ellis CA; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Babushok DV; Comprehensive Bone Marrow Failure Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Hematology-Oncology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA. |
| Source: | British journal of haematology [Br J Haematol] 2023 Jan; Vol. 200 (2), pp. 222-228. Date of Electronic Publication: 2022 Oct 07. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1365-2141 |
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| DOI: | 10.1111/bjh.18491 |
