Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review

BACKGROUND: Arterial Tortuosity Syndrome (ATS) is a very rare autosomal recessive connective tissue disorder (CTD) characterized by tortuosity and elongation of the large- and medium-sized arteries and a propensity for aneurysm formation and vascular dissection. During infancy, children frequently p...

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Detalles Bibliográficos
Autores principales: Ritelli, Marco, Chiarelli, Nicola, Dordoni, Chiara, Reffo, Elena, Venturini, Marina, Quinzani, Stefano, Monica, Matteo Della, Scarano, Gioacchino, Santoro, Giuseppe, Russo, Maria Giovanna, Calzavara-Pinton, Piergiacomo, Milanesi, Ornella, Colombi, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412100/
https://www.ncbi.nlm.nih.gov/pubmed/25373504
http://dx.doi.org/10.1186/s12881-014-0122-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412100/
https://www.ncbi.nlm.nih.gov/pubmed/25373504
http://dx.doi.org/10.1186/s12881-014-0122-5

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