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

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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Bibliographic Details
Main Authors: Laura Pignata, Angela Sparago, Orazio Palumbo, Elena Andreucci, Elisabetta Lapi, Romano Tenconi, Massimo Carella, Andrea Riccio, Flavia Cerrato
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
Silver–Russell syndrome
Beckwith–Wiedemann syndrome
genomic imprinting
imprinting disorders
uniparental disomy
Online Access:https://www.mdpi.com/2073-4425/12/4/581

Internet

https://www.mdpi.com/2073-4425/12/4/581

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