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Rare Gene Mutation in an Indian Male with Anemia and Thrombocytopenia.

作者信息

Khan Afaq Ahmad, Rathod Santosh Govind, Chozakade Aakash, Jalid Ayeshah, Geelani Sajad Ahmed

机构信息

SKIMS, Department of Clinical Hematology, Srinagar, Jammu and Kashmir, India

出版信息

Turk J Haematol. 2022 Dec 1;39(4):268-271. doi: 10.4274/tjh.galenos.2022.2022.0210. Epub 2022 Oct 6.

DOI:10.4274/tjh.galenos.2022.2022.0210
PMID:36199254
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9727723/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a834/9727723/de3530ddbefb/TJH-39-268-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a834/9727723/c38ecc23a73b/TJH-39-268-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a834/9727723/de3530ddbefb/TJH-39-268-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a834/9727723/c38ecc23a73b/TJH-39-268-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a834/9727723/de3530ddbefb/TJH-39-268-g3.jpg

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本文引用的文献

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Pediatr Blood Cancer. 2021 Aug;68(8):e29062. doi: 10.1002/pbc.29062. Epub 2021 Apr 19.
2
Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients.遗传性血小板疾病背景下发生的继发性骨髓纤维化的病因及转归：一项针对4例患者的单机构研究
Br J Haematol. 2020 Sep;190(5):e316-e320. doi: 10.1111/bjh.16897. Epub 2020 Jun 22.
3
Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly.
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Gene. 2019 Oct 5;715:143957. doi: 10.1016/j.gene.2019.143957. Epub 2019 Jul 2.
4
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.由于人类 G6b-B 突变导致的先天性巨血小板减少症伴局灶性骨髓纤维化在人源化小鼠中得到挽救。
Blood. 2018 Sep 27;132(13):1399-1412. doi: 10.1182/blood-2017-08-802769. Epub 2018 Jun 13.
5
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Blood. 2018 Sep 27;132(13):1413-1425. doi: 10.1182/blood-2017-10-802975. Epub 2018 Jun 11.
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Diagnosis and management of newly diagnosed childhood autoimmune haemolytic anaemia. Recommendations from the Red Cell Study Group of the Paediatric Haemato-Oncology Italian Association.新诊断儿童自身免疫性溶血性贫血的诊断与管理。意大利儿科血液肿瘤协会红细胞研究组的建议
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