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Article

Novel ADAMTS13 mutations in an obstetric patient with Upshaw-Schulman syndrome.

Journal of clinical apheresis - 1 Aug 2013

Deal Taylor, Kremer Hovinga Johanna A, Marques Marisa B, Adamski Jill

Abstract excerpt

Upshaw-Schulman syndrome (USS) is a rarely reported congenital form of thrombotic thrombocytopenic purpura (TTP) that results from mutations in the ADAMTS13 gene. Many USS patients are diagnosed during the second or third trimester of their first pregnancy. We present a patient diagnosed with USS following retinal detachments and intrauterine fetal demise at 34 weeks of gestation. The patient's plasma was tested...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23208954
DOI: 10.1002/jca.21251

Genes

ADAMTS13

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Novel ADAMTS13 mutations in an obstetric patient with Upshaw-Schulman syndrome.PMID 23208954Read ↗

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ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw–Schulman SyndromeSemantic proximity Read ↗

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Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.Semantic proximity Read ↗

Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations.Semantic proximity Read ↗

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Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene.Semantic proximity Read ↗

Mutation Spectrum of ADAMTS13 Gene in Patients with Upshaw-Schulman Syndrome (USS) in Russia.Semantic proximity Read ↗

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