Expanding the Molecular and Clinical Phenotype of SSR4‐CDG. Issue 11 (27th August 2015)

• Record Type: Journal Article
• Authors: Ng, Bobby G.; Raymond, Kimiyo; Kircher, Martin; Buckingham, Kati J.; Wood, Tim; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; University of Washington Center for Mendelian Genomics; Wong, Jonathan T.S.; Monteiro, Fabiola Paoli; Graham, Brett H.; Jackson, Sheryl; Sparkes, Rebecca; Scheuerle, Angela E.; Cathey, Sara; Kok, Fernando; Gibson, James B.; Freeze, Hudson H.
• Is Part Of: Human mutation. Volume 36:Issue 11(2015:Nov.)
• Page Start: 1048
• Page End: 1051
• Publication Date: 2015-08-27
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22856
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22856-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Congenital Disorders of Glycosylation (CDG) lead to incomplete protein glycosylation. One disorder, SSR4‐CDG, was previously defined in a single patient. Here we present molecular analysis and clinical phenotypes of eight males with inherited and de novo mutations in X‐linked SSR4. Standard CDG biochemical analysis might easily miss them. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgkfnq9w3f" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>