Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome.
PI3K/Akt/mTOR pathway
PIK3CA
megalencephaly-capillary malformation syndrome
overgrowth syndrome
pulmonary arterial hypertension
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2023
2023
Historique:
received:
12
05
2023
accepted:
24
07
2023
medline:
24
8
2023
pubmed:
24
8
2023
entrez:
24
8
2023
Statut:
epublish
Résumé
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, asymmetrical overgrowth, and connective tissue dysplasia. Herein, we report the case of a 7-month-old girl with MCAP due to a
Identifiants
pubmed: 37614820
doi: 10.3389/fgene.2023.1221745
pii: 1221745
pmc: PMC10442816
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1221745Informations de copyright
Copyright © 2023 Yoh, Shiohama, Uchida, Ebata, Kobayashi, Okunushi, Kato, Watanabe, Nakashima, Saitsu and Hamada.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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