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Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome

Hypocalcemia is one of the cardinal features of the chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome. Hypocalcemia and other features of 22q11.2DS including congenital heart disease (CHD) are primarily ascribed to problems with morphogenesis and function o...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Rayannavar, Arpana, Katz, Lorraine E. Levitt, Crowley, Terrence Blaine, Lessig, Megan, Grand, Katheryn, Goldmuntz, Elizabeth, Zackai, Elaine H., McDonald-McGinn, Donna M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6467273/
https://ncbi.nlm.nih.gov/pubmed/30277015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40495
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