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

Author:

Vanakker Olivier M.,Martin Ludovic,Gheduzzi Dealba,Leroy Bart P.,Loeys Bart L.,Guerci Veronica I.,Matthys Dirk,Terry Sharon F.,Coucke Paul J.,Pasquali-Ronchetti Ivonne,De Paepe Anne

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference34 articles.

1. Mutations in ABCC6 cause pseudoxanthoma elasticum;Bergen;Nat Genet,2000

2. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations;Chassaing;J Med Genet,2005

3. Pseudoxanthoma elasticum: a clinical, histopathological and molecular update;Hu;Surv Ophthalmol,2003

4. Hereditary retinal and choroidal diseases;Krill,1972

5. Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency;Le Corvaisier-Pieto;Ann Dermatol Venereol,1996

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