Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.

作者: Blake C Ballif , Aaron Theisen , Justine Coppinger , Gordon C Gowans , Joseph H Hersh

DOI: 10.1186/1755-8166-1-8

关键词:

摘要: … We also identified five cases which appear to be the reciprocal duplication product of the 3q29 microdeletion because they are flanked by the LCRs which mediate the common …

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