Co-existence of mutations in the FBN1 gene and the ABCC6 gene in a patient with Marfan syndrome associated with pseudoxanthoma elasticum

J Dermatol Sci. 2013 Dec;72(3):325-7. doi: 10.1016/j.jdermsci.2013.07.007. Epub 2013 Jul 30.

Authors

Shujiro Hayashi¹, Atsushi Utani, Akira Iwanaga, Yosuke Yagi, Hiroko Morisaki, Takayuki Morisaki, Yoichiro Hamasaki, Atsushi Hatamochi

Affiliation

¹ Department of Dermatology, Dokkyo Medical University, School of Medicine, Mibu, Tochigi, Japan.

PMID: 23978319
DOI: 10.1016/j.jdermsci.2013.07.007

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Female
Fibrillin-1
Fibrillins
Humans
Marfan Syndrome / complications
Marfan Syndrome / genetics*
Microfilament Proteins / genetics*
Middle Aged
Multidrug Resistance-Associated Proteins / genetics*
Pseudoxanthoma Elasticum / complications
Pseudoxanthoma Elasticum / genetics*

Substances

ABCC6 protein, human
FBN1 protein, human
Fibrillin-1
Fibrillins
Microfilament Proteins
Multidrug Resistance-Associated Proteins