Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology

BACKGROUND: Recently, a patient with maternal uniparental disomy of chromosome 16 (UPD(16)mat) presenting with Silver-Russell syndrome (SRS) phenotype was reported. SRS is characterised by growth failure and dysmorphic features. OBJECTIVE: To clarify the prevalence of UPD(16)mat in aetiology-unknown...

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Veröffentlicht in:J Med Genet
Hauptverfasser: Inoue, Takanobu, Yagasaki, Hideaki, Nishioka, Junko, Nakamura, Akie, Matsubara, Keiko, Narumi, Satoshi, Nakabayashi, Kazuhiko, Yamazawa, Kazuki, Fuke, Tomoko, Oka, Akira, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 2019
Schlagworte:
Epigenetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6582712/
https://ncbi.nlm.nih.gov/pubmed/30242100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105463
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