Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient

Br J Dermatol. 2016 May;174(5):1152-6. doi: 10.1111/bjd.14328. Epub 2016 Feb 18.

Authors

N A Schlipf¹, H Traupe², Y Gilaberte³, W K Peitsch⁴, I Hausser⁵, V Oji², A Schmieder⁴, S W Schneider⁴, P Demmer¹, B Rösler¹, J Fischer¹

Affiliations

¹ Institute of Human Genetics, University Medical Center Freiburg, Breisacherstraße 33, Freiburg, 79106, Germany.
² Department of Dermatology, University Hospital of Münster, Münster, Germany.
³ Department of Dermatology, Hospital San Jose, Huesca, Spain.
⁴ Department of Dermatology, University Medical Center Mannheim, University of Heidelberg, Mannheim, Germany.
⁵ Institute of Pathology, University Clinic Heidelberg, Heidelberg, Germany.

PMID: 26617416
DOI: 10.1111/bjd.14328

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Adult
Calcinosis / genetics
Female
Forearm
Heterozygote
Humans
Hypopigmentation / genetics*
Keratoderma, Palmoplantar / genetics*
Male
Mutation, Missense / genetics*
Pedigree
Phosphoric Diester Hydrolases / genetics*
Pyrophosphatases / genetics*
Somatomedins / genetics*

Substances

Somatomedins
somatomedin B
Phosphoric Diester Hydrolases
ectonucleotide pyrophosphatase phosphodiesterase 1
Pyrophosphatases