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A novel homozygous variant of TMEM260 induced cardiac malformation and neurodevelopmental abnormality: case report and literature review

BACKGROUND: Congenital heart disease (CHD) represents the most widespread congenital birth defect among neonates worldwide, leading to substantial expenses and contributing significantly to premature death caused by birth defects. Despite the significance of CHD, research on its etiology remains lim...

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Detalles Bibliográficos
Autores principales: Peng, Mou, Jing, Siyuan, Duan, Sichen, Lu, Guoyan, Zhou, Kaiyu, Hua, Yimin, Wang, Tao, Yue, Peng, Li, Yifei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10203705/
https://www.ncbi.nlm.nih.gov/pubmed/37228400
http://dx.doi.org/10.3389/fmed.2023.1157042