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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Bibliografiske detaljer
Udgivet i:Cilia
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2018
Fag:
Short Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6247778/
https://ncbi.nlm.nih.gov/pubmed/30479745
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13630-018-0055-2
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