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

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 with MZSDS: an...

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Veröffentlicht in:	Cilia (London) 2018-02, Vol.7 (1), p.1-1, Article 1
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Analysis Blindness Cilia CRISPR Diagnosis Dysplasia Epithelial cells Fibroblasts Genes Genetic analysis Genetic aspects Genetic screening Genetic variation Genomes Genotype & phenotype Growth factors Hearing loss Immunocytochemistry Leber congenital amaurosis Pathogenicity Patients Phenotyping Physiological aspects Proteins Renal failure Risk factors Short Report Thorax Transfection Urine
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