Article
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 - 1 Sept 2018
Abdelrahman Hanadi A, Al-Shamsi Aisha, John Anne, Hertecant Jozef, Lootah Ali, Ali Bassam R, Al-Gazali Lihadh
Abstract excerpt
Non-immune hydrops fetalis (NIHF) is the abnormal accumulation of serous fluid in more than two fetal or neonatal interstitial spaces due to nonimmune causes. It is a serious condition that requires extensive medical care as it indicates severe fetal compromise. We clinically evaluated four patients from two branches of a highly consanguineous family from the UAE with NIHF using whole exome sequencing and in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.