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

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...

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Detalles Bibliográficos
Autores principales: Korman, Benjamin, Wei, Jun, Laumann, Anne, Ferguson, Polly, Varga, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921644/
https://www.ncbi.nlm.nih.gov/pubmed/27382493
http://dx.doi.org/10.1155/2016/2483041

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921644/
https://www.ncbi.nlm.nih.gov/pubmed/27382493
http://dx.doi.org/10.1155/2016/2483041

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