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Characteristics of 22q 11.2 deletion syndrome undiagnosed until adulthood: an example suggesting the importance of psychiatric manifestations

Patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) exhibit various combinations of signs and symptoms including facial dysmorphism, thymus absence, hypoparathyroidism, cellular immunodeficiency and cardiac abnormalities caused by microdeletion of chromosome 22q11.2. Most cases are diagno...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Furuya, Kenta, Sasaki, Yosuke, Takeuchi, Taizo, Urita, Yoshihisa
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4460410/
https://ncbi.nlm.nih.gov/pubmed/26055589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2014-208903
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