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Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs

Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Willet, Cali E., Makara, Mariano, Reppas, George, Tsoukalas, George, Malik, Richard, Haase, Bianca, Wade, Claire M.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4319916/
https://ncbi.nlm.nih.gov/pubmed/25659135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0117055
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