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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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Détails bibliographiques
Publié dans:Genes (Basel)
Auteurs principaux: Pignata, Laura, Sparago, Angela, Palumbo, Orazio, Andreucci, Elena, Lapi, Elisabetta, Tenconi, Romano, Carella, Massimo, Riccio, Andrea, Cerrato, Flavia
Format: Artigo
Langue:Inglês
Publié: MDPI 2021
Sujets:
Accès en ligne: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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