# Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-kif7-link-joubert-syndrome-with-sonic-hedgehog-signaling-and/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Claudia Dafinger,Max C. Liebau,Solaf M. Elsayed,Yorck Hellenbroich,Eugen Boltshauser,Georg Christoph Korenke,Francesca Fabretti,Andreas Janecke,Inga Ebermann,Gudrun Nürnberg,Peter Nürnberg,Hanswalter Zentgraf,Friederike Koerber,Klaus Addicks,Ezzat Elsobky,Thomas Benzing,Bernhard Schermer,Hanno J. Bolz |
| Citations | 214 |
| DOI | 10.1172/jci43639 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OpenAlex ID | https://openalex.org/W2013938815 |
| PMID | 21633164 |
| Type | article |
| Year | 2011 |

## Paper authors

- [Max C. Liebau](https://scholariq.org/researchers/max-c-liebau/)
- [Thomas Benzing](https://scholariq.org/researchers/thomas-benzing/)

## Paper primary topic

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)

## Paper topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Hedgehog Signaling Pathway Studies](https://scholariq.org/topics/hedgehog-signaling-pathway-studies/)
- [Fetal and Pediatric Neurological Disorders](https://scholariq.org/topics/fetal-and-pediatric-neurological-disorders/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.