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Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene

Hereditary thrombotic thrombocytopenic purpura (TTP) is caused by ADAMTS13 mutations with autosomal recessive inheritance. It typically presents during childhood and is frequently misdiagnosed as immune thrombocytopenia. We present a case of hereditary TTP with an undescribed compound heterozygous A...

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Detalles Bibliográficos
Autores principales: Dai, Yi-ling, Tang, Xue, Chen, Hong-bo, Peng, Qiu-yu, Guo, Xia, Gao, Ju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7511713/
https://www.ncbi.nlm.nih.gov/pubmed/33014938
http://dx.doi.org/10.3389/fped.2020.00554