# Distinct neurological features in a patient with Schinzel–Giedion syndrome caused by a recurrent SETBP1 mutation

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/distinct-neurological-features-in-a-patient-with-schinzel-giedion-syndrome/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Jung Min Ko,Byung Chan Lim,Ki Joong Kim,Yong Seung Hwang,Hye Won Ryu,Jung Ho Lee,Jon Su Kim,Jong‐Hee Chae |
| Citations | 63 |
| DOI | 10.1007/s00381-013-2047-2 |
| Fields | Biochemistry, Genetics and Molecular Biology,Health Professions |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2118342540 |
| PMID | 23400866 |
| Type | article |
| Year | 2013 |

## Paper authors

- [Hye Won Ryu](https://scholariq.org/researchers/hye-won-ryu/)

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Oral and Craniofacial Lesions](https://scholariq.org/topics/oral-and-craniofacial-lesions/)

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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.