Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

BACKGROUND: Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones [1]. Heterozygous LEMD3 gene mutations were shown to be...

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Detalles Bibliográficos
Autores principales: Baasanjav, Sevjidmaa, Jamsheer, Aleksander, Kolanczyk, Mateusz, Horn, Denise, Latos, Tomasz, Hoffmann, Katrin, Latos-Bielenska, Anna, Mundlos, Stefan
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2912259/
https://www.ncbi.nlm.nih.gov/pubmed/20618940
http://dx.doi.org/10.1186/1471-2350-11-110

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2912259/
https://www.ncbi.nlm.nih.gov/pubmed/20618940
http://dx.doi.org/10.1186/1471-2350-11-110

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