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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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Bibliografische gegevens
Gepubliceerd in:Genes (Basel)
Hoofdauteurs: Pignata, Laura, Sparago, Angela, Palumbo, Orazio, Andreucci, Elena, Lapi, Elisabetta, Tenconi, Romano, Carella, Massimo, Riccio, Andrea, Cerrato, Flavia
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2021
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Online toegang: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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