Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

BACKGROUND: Mainzer–Saldino syndrome (MZSDS) is a skeletal ciliopathy and part of the short-rib thoracic dysplasia (SRTD) group of ciliary disorders. The main characteristics of MZSDS are short limbs, mild narrow thorax, blindness, and renal failure. Thus far, variants in two genes are associated wi...

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Detalles Bibliográficos
Autores principales: Oud, Machteld M., Latour, Brooke L., Bakey, Zeineb, Letteboer, Stef J., Lugtenberg, Dorien, Wu, Ka Man, Cornelissen, Elisabeth A. M., Yntema, Helger G., Schmidts, Miriam, Roepman, Ronald, Bongers, Ernie M. H. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247778/
https://www.ncbi.nlm.nih.gov/pubmed/30479745
http://dx.doi.org/10.1186/s13630-018-0055-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247778/
https://www.ncbi.nlm.nih.gov/pubmed/30479745
http://dx.doi.org/10.1186/s13630-018-0055-2

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