Associated Papers
THSD1 Is a Multifaceted Regulator in Health and Disease.
Dai M et al.
Biomedicines, 2025
40564011 (PubMed )
Supplement: biomedicines-13-01292-s001.zip › biomedicines-3578304-supplementary.pdf
A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.
Abdelrahman HA et al.
American Journal of Medical Genetics. Part A, 2018
THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage.
Santiago-Sim T et al.
Stroke, 2016
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