# Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/homozygous-mutation-in-mfsd2a-encoding-a-lysolipid-transporter-for/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Tamar Harel,Debra Q Y Quek,Bernice H. Wong,Amaury Cazenave‐Gassiot,Markus R. Wenk,Hao Fan,Itai Berger,Dorit Shmueli,Avraham Shaag,David L. Silver,Orly Elpeleg,Simon Edvardson |
| Citations | 56 |
| DOI | 10.1007/s10048-018-0556-6 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2884127018 |
| PMID | 30043326 |
| Type | article |
| Year | 2018 |

## Paper authors

- [Dorit Shmueli](https://scholariq.org/researchers/dorit-shmueli/)

## Paper primary topic

- [Erythrocyte Function and Pathophysiology](https://scholariq.org/topics/erythrocyte-function-and-pathophysiology/)

## Paper topics

- [Erythrocyte Function and Pathophysiology](https://scholariq.org/topics/erythrocyte-function-and-pathophysiology/)
- [Pancreatic function and diabetes](https://scholariq.org/topics/pancreatic-function-and-diabetes/)
- [Epigenetics and DNA Methylation](https://scholariq.org/topics/epigenetics-and-dna-methylation/)

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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.