# Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/specific-variants-in-wdr35-cause-a-distinctive-form-of-ellis-van-creveld/

## Facts

| Field | Value |
| --- | --- |
| Author Names | José A. Caparrós‐Martín,Alessandro De Luca,François Cartault,Mona Aglan,Samia A. Temtamy,Ghada A. Otaify,Mennat Mehrez,María Valencia,Laura Vázquez,Jean‐Luc Alessandri,Julián Nevado,Inmaculada Rueda‐Arenas,Karen E. Heath,M. Cristina Digilio,Bruno Dallapiccola,Judith A. Goodship,Pleasantine Mill,Pablo Lapunzina,Víctor L. Ruiz‐Pérez |
| Citations | 55 |
| DOI | 10.1093/hmg/ddv152 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://academic.oup.com/hmg/article-pdf/24/14/4126/17262547/ddv152.pdf |
| OpenAlex ID | https://openalex.org/W2107338226 |
| PMID | 25908617 |
| Type | article |
| Year | 2015 |

## Paper authors

- [Mennat Mehrez](https://scholariq.org/researchers/mennat-mehrez/)

## 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/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)

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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.