Deficiency of the Cyclin‐Dependent Kinase Inhibitor, CDKN1B, Results in Overgrowth and Neurodevelopmental Delay. Issue 6 (12th April 2013)

• Record Type: Journal Article
• Authors: Grey, William; Izatt, Louise; Sahraoui, Wafa; Ng, Yiu‐Ming; Ogilvie, Caroline; Hulse, Anthony; Tse, Eric; Holic, Roman; Yu, Veronica
• Is Part Of: Human mutation. Volume 34:Issue 6(2013:Jun.)
• Page Start: 864
• Page End: 868
• Publication Date: 2013-04-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22314
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22314-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Recessive threshold model of CDKN1B in neurodevelopment. Model depicting the proband case with maternally deleted <italic>CDKN1B</italic> and a <italic>de novo</italic> variant c.‐73G&gt;A on the paternal allele. This leads to an overall decrease in CDKN1B protein level, impacting on neurodevelopment. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg20pg57ff" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>