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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.
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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  Data: Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
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  Data: <searchLink fieldCode="AU" term="%22Shah+YB%22">Shah YB</searchLink>; Comprehensive Bone Marrow Failure Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Lin+P%22">Lin P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chen+S%22">Chen S</searchLink>; Division of Hematology-Oncology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Zheng+A%22">Zheng A</searchLink>; Division of Hematology-Oncology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Alcaraz+W%22">Alcaraz W</searchLink>; Ambry Genetics, Aliso Viejo, California, USA.<br /><searchLink fieldCode="AU" term="%22Towne+MC%22">Towne MC</searchLink>; Ambry Genetics, Aliso Viejo, California, USA.<br /><searchLink fieldCode="AU" term="%22Gabriel+C%22">Gabriel C</searchLink>; Division of Hematology-Oncology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Bhoj+EJ%22">Bhoj EJ</searchLink>; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Lambert+MP%22">Lambert MP</searchLink>; Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Olson+TS%22">Olson TS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Frank+DM%22">Frank DM</searchLink>; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Ellis+CA%22">Ellis CA</searchLink>; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Babushok+DV%22">Babushok DV</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%220372544%22">British journal of haematology</searchLink> [Br J Haematol] 2023 Jan; Vol. 200 (2), pp. 222-228. <i>Date of Electronic Publication: </i>2022 Oct 07.
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