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

• Auteurs principaux: Benjamin Korman (Auteur), Jun Wei (Auteur), Anne Laumann (Auteur), Polly Ferguson (Auteur), John Varga (Auteur)
• Format: Livre
• Publié: Hindawi Limited, 2016-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...