# SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/serkal-syndrome-an-autosomal-recessive-disorder-caused-by-a-loss-of-function/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Hannah Mandel,Revital Shemer,Zvi Borochowitz,Marina Okopnik,Carlos Knopf,Margarita Indelman,Arie Drugan,Dov Tiosano,Ruth Gershoni‐Baruch,Mordechai Choder,Eli Sprecher |
| Citations | 277 |
| DOI | 10.1016/j.ajhg.2007.08.005 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929707000067/pdf |
| OpenAlex ID | https://openalex.org/W2140861044 |
| PMID | 18179883 |
| Type | article |
| Year | 2008 |

## Paper authors

- [Eli Sprecher](https://scholariq.org/researchers/eli-sprecher/)

## Paper primary topic

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)

## Paper topics

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)

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