Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis

被引：9

作者：

Gutierrez, Daniel ^{[1
]}

Cooper, Kevin D. ^{[2
]}

Mitchell, Anna L. ^{[3
]}

Cohn, Heather I. ^{[2
]}

机构：

[1] Case Western Reserve Univ, Univ Hosp Case Med Ctr, Sch Med, Cleveland, OH 44106 USA

[2] Case Western Reserve Univ, Univ Hosp Case Med Ctr, Dept Dermatol, Cleveland, OH 44106 USA

[3] Univ Hosp Case Med Ctr, Ctr Human Genet, Dept Genet & Genome Sci, Cleveland, OH USA

来源：

PEDIATRIC DERMATOLOGY | 2015年 / 32卷 / 05期

关键词：

D O I：

10.1111/pde.12634

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Buschke-Ollendorff syndrome is a rare autosomal dominant disorder caused by loss of function in LEMD3, resulting in connective tissue nevi and varying bone dysplasia. Although typically benign, we describe a novel LEMD3 splice site mutation (IVS12+1delG) in a 13-year-old boy with Buschke-Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.

引用

页码：E219 / E220

页数：2

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