Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Abstract Background The ciliopathies represent an umbrella group of >50 clinical entities that share both clinical features and molecular etiology underscored by structural and functional defects of the primary cilium. Despite the advances in gene discovery, this group of entities continues to pose...

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主要な著者:	Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E. Davis
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMC 2017-07-01
シリーズ:	Human Genomics
主題:	Skeletal ciliopathy Conorenal dysplasia Intraflagellar transport Zebrafish Whole exome sequencing Heterodisomy
オンライン･アクセス:	http://link.springer.com/article/10.1186/s40246-017-0111-9
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