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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Autors principals: Baasanjav, Sevjidmaa, Jamsheer, Aleksander, Kolanczyk, Mateusz, Horn, Denise, Latos, Tomasz, Hoffmann, Katrin, Latos-Bielenska, Anna, Mundlos, Stefan
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2010
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2912259/
https://ncbi.nlm.nih.gov/pubmed/20618940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-110
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