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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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Detalles Bibliográficos
Autores principales: Willet, Cali E., Makara, Mariano, Reppas, George, Tsoukalas, George, Malik, Richard, Haase, Bianca, Wade, Claire M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319916/
https://www.ncbi.nlm.nih.gov/pubmed/25659135
http://dx.doi.org/10.1371/journal.pone.0117055