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

Hanadi A. Abdelrahman, Aisha Al-Shamsi, Anne John, Jozef Hertecant, Ali Lootah, Bassam R. Ali, Lihadh Al-Gazali

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Biochemistry, Genetics and Molecular Biology