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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...

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Principais autores: Yuri Yoh, Tadashi Shiohama, Tomoko Uchida, Ryota Ebata, Hironobu Kobayashi, Kentaro Okunushi, Mitsuhiro Kato, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Hiromichi Hamada
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2023-08-01
Serier:Frontiers in Genetics
Fag:
megalencephaly-capillary malformation syndrome
overgrowth syndrome
pulmonary arterial hypertension
PIK3CA
PI3K/Akt/mTOR pathway
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2023.1221745/full
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