Osteopoikilosis and multiple exostoses caused by novel mutations in <it>LEMD3 </it>and <it>EXT1 </it>genes respectively - coincidence within one family
<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 &...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2010-07-01
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Series: | BMC Medical Genetics |
Online Access: | http://www.biomedcentral.com/1471-2350/11/110 |