Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

• मुख्य लेखकों: Benjamin Korman (लेखक), Jun Wei (लेखक), Anne Laumann (लेखक), Polly Ferguson (लेखक), John Varga (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Hindawi Limited, 2016-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Ma...