Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome

JAMA Dermatol. 2016 Jul 1;152(7):844-5. doi: 10.1001/jamadermatol.2016.0350.

Authors

Johanna Kratzsch¹, Diana Mitter², Mirjana Ziemer¹, Jürgen Kohlhase³, Harald Voth¹

Affiliations

¹ Department of Dermatology, Venerology, and Allergology, University of Leipzig, Leipzig, Germany.
² Department of Human Genetics, University of Leipzig, Leipzig, Germany.
³ Department of Human Genetics, University of Freiburg, Freiburg, Germany.

PMID: 27007781
DOI: 10.1001/jamadermatol.2016.0350

No abstract available

Publication types

Case Reports

MeSH terms

Biopsy, Needle
DNA-Binding Proteins
Genetic Predisposition to Disease
Humans
Immunohistochemistry
Infant
Membrane Proteins / genetics*
Nuclear Proteins / genetics*
Osteopoikilosis / genetics*
Osteopoikilosis / pathology*
Point Mutation*
Prognosis
Rare Diseases
Severity of Illness Index
Skin Diseases, Genetic / genetics*
Skin Diseases, Genetic / pathology*

Substances

DNA-Binding Proteins
LEMD3 protein, human
Membrane Proteins
Nuclear Proteins

Supplementary concepts

Buschke-Ollendorff syndrome