# Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/defects-in-the-ift-b-component-ift172-cause-jeune-and-mainzer-saldino-syndromes/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Jan Halbritter,Albane A. Bizet,Miriam Schmidts,Jonathan D. Porath,Daniela A. Braun,Heon Yung Gee,Aideen McInerney‐Leo,Pauline Krug,Emilie Filhol,Erica E. Davis,Rannar Airik,Peter G. Czarnecki,Anna Lehman,Peter Trnka,Patrick Nitschké,Christine Bôle‐Feysot,Markus Schueler,Bertrand Knebelmann,Stéphane Burtey,Attila J. Szabó,Kálmán Tory,Paul Leo,Brooke Gardiner,Fiona A. McKenzie,Andreas Zankl,Matthew A. Brown,Jane Hartley,Eamonn R. Maher,Chunmei Li,Michel R. Leroux,Peter Scambler,Shing H. Zhan,Steven J.M. Jones,Hülya Kayserili,Beyhan Tüysüz,Khemchand N Moorani,Alexandru R. Constantinescu,Ian D. Krantz,Bernard S. Kaplan,Jagesh V. Shah,Toby W. Hurd,Dan Doherty,Nicholas Katsanis,Emma L. Duncan,Edgar A. Otto,Philip L. Beales,Hannah M. Mitchison,Sophie Saunier,Friedhelm Hildebrandt |
| Citations | 233 |
| DOI | 10.1016/j.ajhg.2013.09.012 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | hybrid |
| OA URL | http://www.cell.com/article/S0002929713004527/pdf |
| OpenAlex ID | https://openalex.org/W2120728615 |
| PMID | 24140113 |
| Type | article |
| Year | 2013 |

## Paper authors

- [Jan Halbritter](https://scholariq.org/researchers/jan-halbritter/)
- [Beyhan Tüysüz](https://scholariq.org/researchers/beyhan-tuysuz/)
- [Eamonn R. Maher](https://scholariq.org/researchers/eamonn-r-maher/)

## 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/)
- [Fetal and Pediatric Neurological Disorders](https://scholariq.org/topics/fetal-and-pediatric-neurological-disorders/)
- [Spinal Dysraphism and Malformations](https://scholariq.org/topics/spinal-dysraphism-and-malformations/)

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