# Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mosaic-activating-mutations-in-fgfr1-cause-encephalocraniocutaneous-lipomatosis/

## Facts

| Field | Value |
| --- | --- |
| Author Names | James T. Bennett,Tiong Yang Tan,Diana Alcantara,Martine Tétrault,Andrew E. Timms,Dana M. Jensen,Sarah Collins,Małgorzata J.M. Nowaczyk,Marjorie J. Lindhurst,Katherine Christensen,Stephen R. Braddock,Heather A. Brandling‐Bennett,Raoul C. M. Hennekam,Brian Hon‐Yin Chung,Anna Lehman,John Su,SuYuen Ng,David J. Amor,Jacek Majewski,Les Biesecker,Kym M. Boycott,William B. Dobyns,Mark O’Driscoll,Ute Moog,Laura M. McDonell |
| Citations | 110 |
| DOI | 10.1016/j.ajhg.2016.02.006 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929716000574/pdf |
| OpenAlex ID | https://openalex.org/W2289570353 |
| PMID | 26942290 |
| Type | article |
| Year | 2016 |

## Paper authors

- [John Su](https://scholariq.org/researchers/john-su/)

## Paper primary topic

- [Genetic and rare skin diseases.](https://scholariq.org/topics/genetic-and-rare-skin-diseases/)

## Paper topics

- [Genetic and rare skin diseases.](https://scholariq.org/topics/genetic-and-rare-skin-diseases/)
- [Hedgehog Signaling Pathway Studies](https://scholariq.org/topics/hedgehog-signaling-pathway-studies/)
- [Tumors and Oncological Cases](https://scholariq.org/topics/tumors-and-oncological-cases/)

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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.