# Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Anaïs Drielsma,Chaim Jalas,Nicolas Simonis,Julie Désir,Natalia Simanovsky,Isabelle Pirson,Orly Elpeleg,Marc Abramowicz,Simon Edvardson |
| Citations | 89 |
| DOI | 10.1136/jmedgenet-2012-101190 |
| Fields | Biochemistry, Genetics and Molecular Biology,Neuroscience |
| Open Access | true |
| OA Status | green |
| OA URL | http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/136680 |
| OpenAlex ID | https://openalex.org/W2124054702 |
| PMID | 23042809 |
| Type | article |
| Year | 2012 |

## Paper authors

- [Natalia Simanovsky](https://scholariq.org/researchers/natalia-simanovsky/)

## Paper primary topic

- [Cerebrospinal fluid and hydrocephalus](https://scholariq.org/topics/cerebrospinal-fluid-and-hydrocephalus/)

## Paper topics

- [Cerebrospinal fluid and hydrocephalus](https://scholariq.org/topics/cerebrospinal-fluid-and-hydrocephalus/)
- [Hippo pathway signaling and YAP/TAZ](https://scholariq.org/topics/hippo-pathway-signaling-and-yap-taz/)
- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)

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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.