Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic ca...

Descripción completa

Detalles Bibliográficos
Autores principales: Cabrer, Maria, Serra, Guillermo, Gogorza, María Soledad, Pereg, Vicente
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Error in Diagnosis/Pitfalls and Caveats
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763278/
https://www.ncbi.nlm.nih.gov/pubmed/29340157
http://dx.doi.org/10.1530/EDM-17-0140

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763278/
https://www.ncbi.nlm.nih.gov/pubmed/29340157
http://dx.doi.org/10.1530/EDM-17-0140

Ejemplares similares