Cargando…
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...
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 |
Ejemplares similares
-
A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report
por: Lv, Shaoguang, et al.
Publicado: (2023) -
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature
por: Anjankar, Shailendra D., et al.
Publicado: (2014) -
Congenital hemangioma in spondylocostal dysostosis: a novel
association
por: Salinas-Torres, Victor Michael
Publicado: (2016) -
Clinical genetics of spondylocostal dysostosis: A mini review
por: Umair, Muhammad, et al.
Publicado: (2022) -
Altered Cogs of the Clock: Insights into the Embryonic Etiology of Spondylocostal Dysostosis
por: Nóbrega, Ana, et al.
Publicado: (2021)