# A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel <i>SOX10</i> mutation

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/a-patient-with-peripheral-demyelinating-neuropathy-central-dysmyelinating/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Yuko Akutsu,Kentaro Shirai,Akira Takei,Yudai Goto,Tomohiro Aoyama,Akimitu Watanabe,Masatoshi Imamura,Takashi Enokizono,Tatsuyuki Ohto,Tetsuo Hori,Keiko Suzuki,Masaharu Hayashi,Kouji Masumoto,Ken Inoue |
| Citations | 12 |
| DOI | 10.1002/ajmg.a.38657 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2800445659 |
| PMID | 29681101 |
| Type | article |
| Year | 2018 |

## Paper authors

- [Tomohiro Aoyama](https://scholariq.org/researchers/tomohiro-aoyama/)

## Paper journal

- [American Journal of Medical Genetics Part A](https://scholariq.org/journals/american-journal-of-medical-genetics-part-a/)

## 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/)
- [RNA regulation and disease](https://scholariq.org/topics/rna-regulation-and-disease/)
- [Cancer-related molecular mechanisms research](https://scholariq.org/topics/cancer-related-molecular-mechanisms-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.