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Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult

22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia, who was newly diagnosed with 22q11.2 deletio...

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Detalhes bibliográficos
Publicado no:Eur J Case Rep Intern Med
Main Authors: van der Meijs, Melissa Elise, Schweitzer, Dave Henri, Boom, Henk
Formato: Artigo
Idioma:Inglês
Publicado em: SMC Media Srl 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8112094/
https://ncbi.nlm.nih.gov/pubmed/33987118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12890/2021_002411
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