Chromosome 22q11.2 deletion: world definition criteria, standards for diagnosis and monitoring

The article presents own clinical observation of the chromosome 22q11.2 microdeletion syndrome in a child with congenital heart disease. Phenotype also includes facial skull anomalies, immune disorders, developmental delay and even cognitive deficits. The authors analyzed the current world definitio...

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Bibliographic Details
Main Authors: M.A. Gonchar (Author), O.L. Logvinova (Author), A.I. Strashok (Author), N.V. Konovalova (Author), D.A. Ivakhnenko (Author)
Format: Book
Published: Zaslavsky O.Yu., 2018-02-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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