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

• Main Authors: Horn Denise (Author), Kolanczyk Mateusz (Author), Jamsheer Aleksander (Author), Baasanjav Sevjidmaa (Author), Latos Tomasz (Author), Hoffmann Katrin (Author), Latos-Bielenska Anna (Author), Mundlos Stefan (Author)
• Format: Book
• Published: BMC, 2010-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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 &...