A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

Analysis of a nuclear family with three affected offspring identified an autosomal-recessive form of spondyloepimetaphyseal dysplasia characterized by severe short stature and a unique constellation of radiographic findings. Homozygosity for a haplotype that was identical by descent between two of t...

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Auteurs principaux: Tompson, Stuart W., Merriman, Barry, Funari, Vincent A., Fresquet, Maryline, Lachman, Ralph S., Rimoin, David L., Nelson, Stanley F., Briggs, Michael D., Cohn, Daniel H., Krakow, Deborah
Format: Artigo
Langue:Inglês
Publié: Elsevier 2009
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668039/
https://ncbi.nlm.nih.gov/pubmed/19110214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.12.001
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