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

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 dia...

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Publicat a:Hum Genomics
Autors principals: Helm, Benjamin M., Willer, Jason R., Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Primary Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5517791/
https://ncbi.nlm.nih.gov/pubmed/28724397
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-017-0111-9
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