Heterozygous Mutations in Natriuretic Peptide Receptor‐B (NPR2) Gene as a Cause of Short Stature. Issue 4 (16th March 2015)

• Record Type: Journal Article
• Authors: Wang, Sophie R.; Jacobsen, Christina M.; Carmichael, Heather; Edmund, Aaron B.; Robinson, Jerid W.; Olney, Robert C.; Miller, Timothy C.; Moon, Jennifer E.; Mericq, Veronica; Potter, Lincoln R.; Warman, Matthew L.; Hirschhorn, Joel N.; Dauber, Andrew
• Is Part Of: Human mutation. Volume 36:Issue 4(2015:Apr.)
• Page Start: 474
• Page End: 481
• Publication Date: 2015-03-16
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22773
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22773-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Segregation of identified <italic>NPR2</italic> nonsynonymous variants in affected families. Numbers below the individuals denote the height <italic>z</italic> scores. + indicates family members who also carry the <italic>TRPV4</italic> mutation causal of brachyolmia. ^ indicates that this family member was treated with growth hormone therapy prior to this height measurement and had a nadir height of −2.8 SDS. * indicates that the height was estimated by a family member. All other values were measured. Individuals with short stature are indicated as black circles (females) or squares (males). The arrow points to the affected proband in each family. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjdndb37g" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>