Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)

INTRODUCTION: Spondylo-epi-metaphyseal dysplasia (SEMD) represents a group of osteo-chondrodysplasias characterized by vertebral, epiphyseal as well as metaphyseal abnormalities. Several genes have been identified underlying the different forms. METHODOLOGY AND RESULTS: Two relatives (cousins) in a...

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Publicado no:Bone Rep
Main Authors: Das, Liza, Dhiman, Vandana, Van Hul, Wim, Bhansali, Anil, Gogate, Yashpal, Steenackers, Ellen, Mortier, Geert, Bhadada, Sanjay Kumar
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6997811/
https://ncbi.nlm.nih.gov/pubmed/32025536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bonr.2020.100245
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