Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

Carolina Courage; Christopher B. Jackson; Marta Owczarek-Lipska; Aleksander Jamsheer; Anna Sowinska-Seidler; Malgorzata Piotrowicz; Lucjusz Jakubowski; Fanny Dalleves; Erik Riesch; John Neidhardt; Johannes R. Lemke

doi:10.1002/ajmg.a.61354

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

Carolina Courage, Christopher B. Jackson, Marta Owczarek-Lipska, Aleksander Jamsheer, Anna Sowinska-Seidler, Malgorzata Piotrowicz, Lucjusz Jakubowski, Fanny Dalleves, Erik Riesch, John Neidhardt, Johannes R. Lemke

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	American journal of medical genetics. Part A
Volume	179
Issue number	12
Pages (from-to)	2447-2453
Number of pages	7
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.61354
Publication status	Published - Dec 2019
MoE publication type	A1 Journal article-refereed

Fields of Science

FGFR1
fibroblast growth factor receptor 1
gonadal mosaicism
Hartsfield syndrome
holoprosencephaly
MUTATIONS
ASSOCIATION
1184 Genetics, developmental biology, physiology
3111 Biomedicine

Access to Document

10.1002/ajmg.a.61354

Cite this

@article{7f270f5add704f07bd2bb6f7174e34f4,

title = "Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome",

keywords = "FGFR1, fibroblast growth factor receptor 1, gonadal mosaicism, Hartsfield syndrome, holoprosencephaly, MUTATIONS, ASSOCIATION, 1184 Genetics, developmental biology, physiology, 3111 Biomedicine",

author = "Carolina Courage and Jackson, {Christopher B.} and Marta Owczarek-Lipska and Aleksander Jamsheer and Anna Sowinska-Seidler and Malgorzata Piotrowicz and Lucjusz Jakubowski and Fanny Dalleves and Erik Riesch and John Neidhardt and Lemke, {Johannes R.}",

year = "2019",

month = dec,

doi = "10.1002/ajmg.a.61354",

language = "English",

volume = "179",

pages = "2447--2453",

journal = "American journal of medical genetics. Part A",

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TY - JOUR

T1 - Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

AU - Courage, Carolina

AU - Jackson, Christopher B.

AU - Owczarek-Lipska, Marta

AU - Jamsheer, Aleksander

AU - Sowinska-Seidler, Anna

AU - Piotrowicz, Malgorzata

AU - Jakubowski, Lucjusz

AU - Dalleves, Fanny

AU - Riesch, Erik

AU - Neidhardt, John

AU - Lemke, Johannes R.

PY - 2019/12

Y1 - 2019/12

KW - FGFR1

KW - fibroblast growth factor receptor 1

KW - gonadal mosaicism

KW - Hartsfield syndrome

KW - holoprosencephaly

KW - MUTATIONS

KW - ASSOCIATION

KW - 1184 Genetics, developmental biology, physiology

KW - 3111 Biomedicine

U2 - 10.1002/ajmg.a.61354

DO - 10.1002/ajmg.a.61354

M3 - Article

SN - 1552-4825

VL - 179

SP - 2447

EP - 2453

JO - American journal of medical genetics. Part A

JF - American journal of medical genetics. Part A

IS - 12

ER -