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Case Report: Identification of microduplication in the chromosomal 2p16.1p15 region in an infant suffering from pulmonary arterial hypertension

This study reports the first case of a patient with chromosomal 2p16.1p15 microduplication syndrome complicated by pulmonary arterial hypertension (PAH). A female infant was admitted to the hospital suffering from dyskinesia and developmental delay, and conventional echocardiography revealed an atri...

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Detalles Bibliográficos
Autores principales: Wang, Xun, Zhang, Zeying, Zuo, Wanyun, Wang, Dan, Yang, Fan, Liu, Qiming, Xiao, Yunbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10626460/
https://www.ncbi.nlm.nih.gov/pubmed/37937284
http://dx.doi.org/10.3389/fcvm.2023.1219480