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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...

詳細記述

保存先:
書誌詳細
主要な著者: Marta Skoczyńska, Izabela Lehman
フォーマット: Artigo
言語:Inglês
出版事項: Medical Communications Sp. z o.o. 2017-12-01
シリーズ:Pediatria i Medycyna Rodzinna
主題:
オンライン・アクセス:http://www.pimr.pl/index.php/issues/2017-vol-13-no-4/22q11-2-microdeletion-syndrome-as-a-multidisciplinary-problem?aid=1130
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