Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome-Reference-Cited by-同舟云学术

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

Published:2019-09-11 Issue:12 Volume:179 Page:2447-2453
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Courage Carolina¹²,Jackson Christopher B.³^ORCID,Owczarek‐Lipska Marta⁴,Jamsheer Aleksander⁵⁶,Sowińska‐Seidler Anna⁵,Piotrowicz Małgorzata⁷,Jakubowski Lucjusz⁷,Dallèves Fanny²,Riesch Erik⁸,Neidhardt John⁴,Lemke Johannes R.⁹

Affiliation:

1. Folkhälsan Research Center Helsinki Finland

2. Division of Human Genetics, Department of Pediatrics, Inselspital University of Bern Bern Switzerland

3. Stem Cells and Metabolism Research Program, Faculty of Medicine University of Helsinki Helsinki Finland

4. Human Genetics, Faculty of Medicine and Health Sciences University of Oldenburg Oldenburg Germany

5. Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland

6. Centers for Medical Genetics GENESIS Poznan Poland

7. Department of Genetics Polish Mother's Memorial Hospital Research Institute Poland

8. CeGaT GmbH—Center for Genomics and Transcriptomics Tübingen Germany

9. Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany

Funder

Narodowe Centrum Nauki

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61354

Reference25 articles.

1. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

2. Novel de novo heterozygousFGFR1mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism

3. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

4. Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

5. Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations

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