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

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 po...

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Bibliographic Details
Main Authors: Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E. Davis
Format: Article
Language:English
Published: BMC 2017-07-01
Series:Human Genomics
Subjects:
Skeletal ciliopathy
Conorenal dysplasia
Intraflagellar transport
Zebrafish
Whole exome sequencing
Heterodisomy
Online Access:http://link.springer.com/article/10.1186/s40246-017-0111-9

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http://link.springer.com/article/10.1186/s40246-017-0111-9

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