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pro vyhledávání: '"Satya Das"'
Autor:
Lily Van, Tracy Heung, Sarah L. Malecki, Christian Fenn, Andrea Tyrer, Marcos Sanches, Eva W.C. Chow, Erik Boot, Maria Corral, Satya Dash, Susan R. George, Anne S. Bassett
Publikováno v:
EClinicalMedicine, Vol 26, Iss , Pp 100528- (2020)
Background: The 22q11.2 microdeletion is the pathogenic copy number variation (CNV) associated with 22q11.2 deletion syndrome (22q11.2DS, formerly known as DiGeorge syndrome). Familiar endocrinological manifestations include hypoparathyroidism and hy
Externí odkaz:
https://doaj.org/article/c77059ec52e54db79f5bf6dcc86a5cd2