Novel ADAMTS13 mutation in a family with three recurrent neonatal deaths: a case report and literature review

BACKGROUND: Upshaw-Schulman syndrome (USS) is rare, autosomal recessive, hereditary thrombotic thrombocytopenic purpura (TTP) caused by variants in a disintegrin-like and metalloprotease with thrombospondin type 1 motif (ADAMTS13). USS has a heterogeneous clinical course, and most symptoms overlap w...

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Detalles Bibliográficos
Autores principales: Yang, Ling, Li, Xinan, Zhu, Xiangyu, Gu, Ning, Dai, Yimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9173869/
https://www.ncbi.nlm.nih.gov/pubmed/35685080
http://dx.doi.org/10.21037/tp-22-114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9173869/
https://www.ncbi.nlm.nih.gov/pubmed/35685080
http://dx.doi.org/10.21037/tp-22-114

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