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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Detalles Bibliográficos
Autores principales: Yoh, Yuri, Shiohama, Tadashi, Uchida, Tomoko, Ebata, Ryota, Kobayashi, Hironobu, Okunushi, Kentaro, Kato, Mitsuhiro, Watanabe, Kazuki, Nakashima, Mitsuko, Saitsu, Hirotomo, Hamada, Hiromichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10442816/
https://www.ncbi.nlm.nih.gov/pubmed/37614820
http://dx.doi.org/10.3389/fgene.2023.1221745

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10442816/
https://www.ncbi.nlm.nih.gov/pubmed/37614820
http://dx.doi.org/10.3389/fgene.2023.1221745

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