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Pseudoxanthoma elasticum

*Gene map locus 17q21.3-q22, 16p13.1, etc.
Gronblad-Strandberg syndrome
[Clinical features: systemic disease of connective tissue primarily affecting the skin, retina, and cardiovascular system]
[Inheritance: autosomal recessive]

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Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
Journal of Medical Genetics
Journal of Medical Genetics
Journal of Medical Genetics

Gronblad Strandberg Syndrome with Vertibrobasilar Dolichoectasia
Gronblad Strandberg Syndrome with Vertibrobasilar Dolichoectasia
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones
Journal of The Association of Physicians of India
Journal of The Association of Physicians of India
Molecular Vision

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
Mutations in ABCC6 cause pseudoxanthoma elasticum
Pseudoxanthoma elasticum
Nature Genetics
Nature Genetics
Postgraduate Medical Journal

Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
University of California, San Diego - Division of Medical Education
University of California, San Diego - Division of Medical Education
University of California, San Diego - Division of Medical Education

 
Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
 
University of California, San Diego - Division of Medical Education
University of California, San Diego - Division of Medical Education
 

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Edited by Aldo Campana, August 21, 2012