Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome-Reference-Cited by-同舟云学术

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

Published:2017-04 Issue:2 Volume:26 Page:83-90
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Pelc Magdalena,Ciara Elżbieta,Jezela-Stanek Aleksandra,Kugaudo Monika,Cieślikowska Agata,Jurkiewicz Dorota,Janeczko Magdalena,Chrzanowska Krystyna,Krajewska-Walasek Małgorzata,Skórka Agata

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference45 articles.

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2. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders;Aoki;Hum Mutat,2008

3. Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation;Blachowska;Ital J Pediatr,2016

4. The GTPase superfamily: conserved structure and molecular mechanism;Bourne;Nature,1991

5. Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val;Burkitt-Wright;Am J Med Genet A,2012

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1. Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients;Journal of the European Academy of Dermatology and Venereology;2024-04-10

2. Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients;Clinical Dysmorphology;2021-11-29