Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease

Familial thoracic aortic aneurysms and dissections may occur as an isolated hereditary trait or as part of connective tissue disorders with Mendelian inheritance, but severe cardiovascular disease in pediatric patients is extremely rare. There is growing knowledge on pathogenic variants causing the...

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Detalles Bibliográficos
Autores principales: Ponińska, Joanna Kinga, Pelczar-Płachta, Weronika, Pollak, Agnieszka, Jończyk-Potoczna, Katarzyna, Truszkowska, Grażyna, Michałowska, Ilona, Szafran, Emilia, Bilińska, Zofia T., Bobkowski, Waldemar, Płoski, Rafał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671125/
https://www.ncbi.nlm.nih.gov/pubmed/38002926
http://dx.doi.org/10.3390/genes14111983

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671125/
https://www.ncbi.nlm.nih.gov/pubmed/38002926
http://dx.doi.org/10.3390/genes14111983

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