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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Detalles Bibliográficos
Autores principales: Pignata, Laura, Sparago, Angela, Palumbo, Orazio, Andreucci, Elena, Lapi, Elisabetta, Tenconi, Romano, Carella, Massimo, Riccio, Andrea, Cerrato, Flavia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8073375/
https://www.ncbi.nlm.nih.gov/pubmed/33923683
http://dx.doi.org/10.3390/genes12040581

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8073375/
https://www.ncbi.nlm.nih.gov/pubmed/33923683
http://dx.doi.org/10.3390/genes12040581

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