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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Detalles Bibliográficos
Autores principales: Helm, Benjamin M., Willer, Jason R., Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517791/
https://www.ncbi.nlm.nih.gov/pubmed/28724397
http://dx.doi.org/10.1186/s40246-017-0111-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517791/
https://www.ncbi.nlm.nih.gov/pubmed/28724397
http://dx.doi.org/10.1186/s40246-017-0111-9

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