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A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels

机译:一项全基因组关联研究确定了骑士查尔斯王猎犬中与Chiari样畸形继发的脊髓空洞症相关的候选基因座

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摘要

BackgroundSyringomyelia (SM) is a common condition affecting brachycephalic toy breed dogs and is characterized by the development of fluid-filled cavities within the spinal cord. It is often concurrent with a complex developmental malformation of the skull and craniocervical vertebrae called Chiari-like malformation (CM) characterized by a conformational change and overcrowding of the brain and cervical spinal cord particularly at the craniocervical junction. CM and SM have a polygenic mode of inheritance with variable penetrance.
机译:背景脊髓空洞症(SM)是一种影响短头类玩具狗的常见疾病,其特征是脊髓内充液腔的形成。它通常与颅骨和颅颈椎骨的复杂发育畸形(称为Chiari样畸形(CM))并发,其特征是大脑和颈脊髓特别是在颅颈交界处的构象变化和过度拥挤。 CM和SM具有多基因的遗传模式,具有不同的外显率。

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