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Hypocalcemia and a Positive Metabolic Screen for Severe Combined Immunodeficiency in an 11-Day-Old Male With DiGeorge Syndrome

22q11 deletion syndrome (22q11DS), also known as DiGeorge syndrome or velocardiofacial syndrome, is the most common human genetic microdeletion. Hypocalcemia secondary to hypoparathyroidism is a common finding in this condition and may present with seizures. We describe a case of an 11-day-old male...

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Detalhes bibliográficos
Publicado no:Cureus
Main Authors: Ford, Jessica, Pena, Jose M, Rainey, Shane C
Formato: Artigo
Idioma:Inglês
Publicado em: Cureus 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7584303/
https://ncbi.nlm.nih.gov/pubmed/33123438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.10625
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