Article
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
Human genomics - 19 Jul 2017
Helm Benjamin M, Willer Jason R, Sadeghpour Azita, Golzio Christelle, Crouch Eric, Vergano Samantha Schrier, Katsanis Nicholas, Davis Erica E
Abstract excerpt
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 a diagnostic challenge, in part due to significant genetic and phenotypic heterogeneity and variability. We consulted a...
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