Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.
Pediatr Dermatol
; 32(5): e219-20, 2015.
Article
em En
| MEDLINE
| ID: mdl-26135202
ABSTRACT
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Osteopecilose
/
Dermatopatias Genéticas
/
Proteínas Nucleares
/
Predisposição Genética para Doença
/
Melorreostose
/
Proteínas de Membrana
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article