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.
American journal of medical genetics. Part A | 2018-09-01 | PMID 30055085
Abdelrahman Hanadi A, Al-Shamsi Aisha, John Anne and 4 more
Genes: THSD1
