New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations-Reference-Cited by-同舟云学术

New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations

Published:2015-11-26 Issue:1 Volume:80 Page:50-62
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Čizmárová M.¹,Hlinková K.¹,Bertok S.²,Kotnik P.²,Duba H.C.³,Bertalan R.⁴,Poločková K.⁵,Košťálová Ľ.¹,Pribilincová Z.¹,Hlavatá A.¹,Kovács L.¹,Ilenčíková D.¹³

Affiliation:

1. 2nd Department of Pediatrcs; University Children's Hospital; Bratislava Slovakia

2. Department of Endocrinology, Diabetes and Metabolic Diseases; University Children's Hospital; Ljubljana Slovenia

3. Department of Human Genetics; Women's and Children's Clinic; Linz Austria

4. Department od Pediatric Endocrinology; University Teaching Hospital; Veszprem Hungary

5. Department of Pediatric Endocrinology; Hospital with Policlinic; Karviná Czech Republic

Funder

Ministry of Health of the Slovak Republic

Comenius University in Slovakia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12140/fullpdf

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5. Gain-of-function mutations in RIT1 gene cause Noonan syndrome, a RAS/MAPK pathway syndrome;Aoki;Am J Hum Genet,2013

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