A novel FOXP3 mutation in a Chinese child with IPEX‐associated membranous nephropathy
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1945
Abstract: Immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome is a monogenic immunodeficiency disease caused by forkhead box protein3 (FOXP3) mutation. The kidney is commonly involved in IPEX syndrome, but there were few studies focusing on renal… read more here.
Keywords: novel foxp3; chinese child; child ipex; mutation chinese ... See more keywords
A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6294
Abstract: A couple was referred for prenatal counseling at gestational age 21 weeks for revealed situs inversus with levocardia (HP:0,031,592), atrial situs inversus (HP:0,011,538), congenitally corrected transposition of the great arteries (ccTGA, HP:0,011,540) with ventricular septal… read more here.
Keywords: zic3 mutation; defect; novel zic3; congenital heart ... See more keywords