Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome

Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome

Megalencephaly-capillary malformation syndrome (MCAP, OMIM # 602501) is caused by hyperactivity of the thephosphoinositide-3-kinase (PI3K)–Vakt murine thymoma viral oncogene homolog (AKT)–mammalian target of rapamycin (mTOR) pathway, which results in megalencephaly, capillary malformations, asymmetr...

Full description

Bibliographic Details
Main Authors: Yuri Yoh, Tadashi Shiohama, Tomoko Uchida, Ryota Ebata, Hironobu Kobayashi, Kentaro Okunushi, Mitsuhiro Kato, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Hiromichi Hamada
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Genetics
Subjects:
megalencephaly-capillary malformation syndrome
overgrowth syndrome
pulmonary arterial hypertension
PIK3CA
PI3K/Akt/mTOR pathway
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1221745/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1221745/full

Similar Items