PMID: 20034067

Le Boulanger G, Labreze C, Croue A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
Am J Med Genet A. 2010 Jan;152A(1):118-23., [PubMed]
Sentences
No. Mutations Sentence Comment
101 ABCC6 p.Arg765Gln
X
ABCC6 p.Arg765Gln 20034067:101:98
status: NEW
view ABCC6 p.Arg765Gln details
ABCC6 p.Gln1406Lys
X
ABCC6 p.Gln1406Lys 20034067:101:114
status: NEW
view ABCC6 p.Gln1406Lys details
 Cervicalyellowishpapulescharacteristicofpseudoxanthoma elasticum in the elder brother aged 28. p.Arg765Gln and p.Gln1406Lys, demonstrating PXE. Login to comment