Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review

• Main Authors: Xiao-xian Deng (Author), Bo-wen Jin (Author), Shan-shan Li (Author), Hong-mei Zhou (Author), Qun-shan Shen (Author), Yun-yan Li (Author)
• פורמט: ספר
• יצא לאור: BMC, 2023-08-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Pediatric pulmonary hypertension (PH) is a serious and rare disease that is often derived from genetic mutations. Kabuki syndrome (KS) is a chromosomal abnormality disease that has its origin in the mutation of lysine methyltransferase 2D(KMT2D). Recent evidence has shown that KM...