22q11.2 microdeletion syndrome as a multidisciplinary problem

22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent deletion in the human chromosome. Its prevalence is estimated at about 1:9,700 newborns, but this is probably an underestimation. In over 90% of cases, the disease is caused by de novo microdeletio...

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Bibliographic Details
Main Authors: Marta Skoczyńska, Izabela Lehman
Format: Article
Language:English
Published: Medical Communications Sp. z o.o. 2017-12-01
Series:Pediatria i Medycyna Rodzinna
Subjects:
Online Access:http://www.pimr.pl/index.php/issues/2017-vol-13-no-4/22q11-2-microdeletion-syndrome-as-a-multidisciplinary-problem?aid=1130