maternal uniparental disomy of chromosome 16

Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
Takanobu Inoue, Hideaki Yagasaki, Junko Nishioka, Akie Nakamura, Keiko Matsubara, Satoshi Narumi, Kazuhiko Nakabayashi, Kazuki Yamazawa, Tomoko Fuke, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami

Journal of Medical Genetics Jun 2019, 56 (6) 413-418; DOI: 10.1136/jmedgenet-2018-105463

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maternal uniparental disomy of chromosome 16