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Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis
Shimojima, Keiko, Ondo, Yumiko, Matsufuji, Mayumi, Sano, Nozomi, Tsuru, Hisashi, Oyoshi, Tatsuki, Higa, Nayuta, Tokimura, Hiroshi, Arita, Kazunori, Yamamoto, ToshiyukiVolume:
59
Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2016.10.006
Date:
November, 2016
File:
PDF, 585 KB
english, 2016