A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34290/fullpdf
Reference23 articles.
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2. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: Occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS;Bliek;Hum Mol Genet,2001
3. Phenotypic discordance upon paternal or maternal transmission of duplications of 11p15 imprinted regions;Bliek;Eur J Med Genet,2009
4. Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family;Cardarelli;Pediatr Dev Pathol,2010
5. Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies;Carella;Am J Med Genet Part A,2010
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