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Article

Discovering a Rare Connection: Hereditary Thrombotic Thrombocytopenic Purpura and Large Placental Lakes.

Journal of pediatric hematology/oncology - 1 Jul 2025

Dokuzboy Refika S, Çetin Dilek, Tuğcu Ali U, Oğuz Şerife S

Abstract excerpt

Hereditary thrombotic thrombocytopenic purpura (hTTP) is a rare genetic disorder caused by mutations in the ADAMTS13 (a disintegrin-like and metalloprotease with thrombospondin type 1 motif, member 13) gene, leading to deficient or absent ADAMTS13 activity. Without ADAMTS13, ultralarge von Willebrand factor (ULVWF) molecules are not properly cleaved, resulting in the formation of platelet-rich thrombi, platelet...

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Identifiers

PMID: 40424567
DOI: 10.1097/MPH.0000000000003053

Genes

ADAMTS13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

Related research

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Research trail→

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Discovering a Rare Connection: Hereditary Thrombotic Thrombocytopenic Purpura and Large Placental Lakes.PMID 40424567Read ↗

Severe Hemolysis and Pulmonary Hypertension in a Neonate With Upshaw-Schulman Syndrome.Semantic proximity Read ↗

Hereditary Thrombotic Thrombocytopenic Purpura.Semantic proximity Read ↗

Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy.Semantic proximity Read ↗

Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month-old: Diagnosing and Managing an Ultra-rare Disorder.Semantic proximity Read ↗

A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.Semantic proximity Read ↗

Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children.Semantic proximity Read ↗

Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage-novel compound heterozygous mutations in hTTP.Semantic proximity Read ↗

Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura.Semantic proximity Read ↗

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

Molecular basis of ADAMTS13 dysfunction in thrombotic thrombocytopenic purpura.Semantic proximity Read ↗

Hereditary thrombotic thrombocytopenic purpura mimicking idiopathic thrombocytopenic purpura was revealed by miscarriage——Novel Compound Heterozygous Mutations in hTTPSemantic proximity Read ↗

Current insights into thrombotic microangiopathies: Thrombotic thrombocytopenic purpura and pregnancy.Semantic proximity Read ↗

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