New genetic disorder linked to severe childhood lung disease
Teona Gherasim
Baylor College of Medicine Jun 8 2026 A new report in the American Journal of Human Genetics describes a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, which results in severe lung disease. Researchers at Baylor College of Medicine, Texas Children's Hospital and collaborating institutions in Asia and Europe explain how this disorder presented in five individuals from four unrelated families. Variants leading to gain-of-function of one copy of the TMEM63B gene (
din zilele anterioare