Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report

BACKGROUND: Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsense mutati...

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Detalles Bibliográficos
Autores principales: Zhang, Hua-yong, Xiao, Min, Zhang, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10656980/
https://www.ncbi.nlm.nih.gov/pubmed/37980465
http://dx.doi.org/10.1186/s12887-023-04408-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10656980/
https://www.ncbi.nlm.nih.gov/pubmed/37980465
http://dx.doi.org/10.1186/s12887-023-04408-0

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