Concepedia

Paediatric pseudoxanthoma elasticum with cardiovascular involvement

Qiaoli Li, John Baker, J Kowalczyk, Qiujie Jiang, J. Uitto, Lawrence A. Schachner

British Journal of Dermatology · 2013 · 12 citations · 12 references

DOIFull text

Open access

Abstract

This study demonstrates the presence of cutaneous findings of PXE in an 8-year-old paediatric patient, with cardiovascular involvement, illustrating the phenotypic spectrum of PXE.

References

12

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen et al. · The American Journal of Human Genetics · 2011 · 335 citations · Full text

, , +7

A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

Olivier Le Saux, Konstanze Beck, Christine Sachsinger et al. · The American Journal of Human Genetics · 2001 · 200 citations · Full text

, , +6

Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity

Olivier Vanakker, Ludovic Martin, Dealba Gheduzzi et al. · Journal of Investigative Dermatology · 2006 · 197 citations · Full text

, , +8

Mutation detection in the <i>ABCC6</i> gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Ellen G Pfendner, O. Vanakker, Sharon F. Terry et al. · Journal of Medical Genetics · 2007 · 195 citations · Full text

Pseudoxanthoma Elasticum: Molecular Genetics and Putative Pathomechanisms

Jouni Uitto, Qiaoli Li, Qiujie Jiang · Journal of Investigative Dermatology · 2009 · 144 citations · Full text

, , +8