Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; ...

Caused by mutation in the cyclin-dependent kinase inhibitor 1C gene (CDKN1C, 600856.0001) - Caused by mutation in the nuclear receptor binding SET domain ...

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

BECKWITH-WIEDEMANN SYNDROME; BWS BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED Cytogenetic locations: 11p15.5, 11p15.5, 11p15.4

BECKWITH-WIEDEMANN SYNDROME; BWS BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED Cytogenetic locations: 11p15.5, 11p15.5, 11p15.4

130650, BECKWITH-WIEDEMANN SYNDROME; BWS ; 147470, INSULIN-LIKE GROWTH FACTOR II; IGF2 ; 600856, CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C ; 604115, KCNQ1- ...

BECKWITH-WIEDEMANN SYNDROME; BWS BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED Cytogenetic locations: 11p15.5, 11p15.5, 11p15.4

KCNQ1-opposite strand/antisense transcript 1, 604115, Beckwith-Wiedemann syndrome ... Beckwith-Wiedemann syndrome, 130650, AD, 3, rare cause of BWS, Cdkn1c. IMAGE ...

ICR1 and a neighboring imprinted gene cluster are implicated in Beckwith-Wiedemann syndrome (BWS; 130650), of which Wilms tumor is a common feature. For a ...

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.