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Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome

Molecular defects altering the expression of the imprinted genes of the 11p15.5 cluster are responsible for the etiology of two congenital disorders characterized by opposite growth disturbances, Silver–Russell syndrome (SRS), associated with growth restriction, and Beckwith–Wiedemann syndrome (BWS)...

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書目詳細資料
發表在:Genes (Basel)
Main Authors: Pignata, Laura, Sparago, Angela, Palumbo, Orazio, Andreucci, Elena, Lapi, Elisabetta, Tenconi, Romano, Carella, Massimo, Riccio, Andrea, Cerrato, Flavia
格式: Artigo
語言:Inglês
出版: MDPI 2021
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8073375/
https://ncbi.nlm.nih.gov/pubmed/33923683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12040581
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