# A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/a-homozygous-mutation-in-the-endothelin-3-gene-associated-with-a-combined/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Robert M.W. Hofstra,Jan Osinga,Gita Tan-Sindhunata,Ying Wu,Erik-J. Kamsteeg,Rein P. Stulp,Conny M.A. van Ravenswaaij‐Arts,Daniëlle Majoor‐Krakauer,Misha Angrist,Aravinda Chakravarti,Carel Meijers,Charles H.C.M. Buys |
| Citations | 300 |
| DOI | 10.1038/ng0496-445 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | http://hdl.handle.net/1765/54507 |
| OpenAlex ID | https://openalex.org/W2143051878 |
| PMID | 8630503 |
| Type | article |
| Year | 1996 |

## Paper authors

- [Ying Wu](https://scholariq.org/researchers/ying-wu-2/)

## Paper primary topic

- [Congenital gastrointestinal and neural anomalies](https://scholariq.org/topics/congenital-gastrointestinal-and-neural-anomalies/)

## Paper topics

- [Congenital gastrointestinal and neural anomalies](https://scholariq.org/topics/congenital-gastrointestinal-and-neural-anomalies/)
- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)
- [Intestinal Malrotation and Obstruction Disorders](https://scholariq.org/topics/intestinal-malrotation-and-obstruction-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.