An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch

Chromosome 22q11.2 deletion syndrome (22q11.2 DS) has a very wide phenotypic spectrum that includes dysmorphic features, cardiac anomalies, and hypocalcemia arising from hypoparathyroidism. We herein describe an adult case of 22q11.2 DS with associated hypoparathyroidism and anomalies of the aortic...

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Detalles Bibliográficos
Autores principales: Hoshino, Yoichi, Machida, Moriya, Shimano, Shun-ichi, Taya, Teizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457934/
https://www.ncbi.nlm.nih.gov/pubmed/28381757
http://dx.doi.org/10.2169/internalmedicine.56.7558

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