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
en 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
Banco de datos:
MEDLINE
Asunto principal:
Osteopoiquilosis
/
Enfermedades Cutáneas Genéticas
/
Proteínas Nucleares
/
Predisposición Genética a la Enfermedad
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Melorreostosis
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Proteínas de la Membrana
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Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Año:
2015
Tipo del documento:
Article