Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations-Reference-Cited by-同舟云学术

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations

Published:2009-04-24 Issue:5 Volume:149A Page:1036-1040
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kratz Christian P.,Zampino Giuseppe,Kriek Marjolein,Kant Sarina G.,Leoni Chiara,Pantaleoni Francesca,Oudesluys-Murphy Anne Marie,Di Rocco Concezio,Kloska Stephan P.,Tartaglia Marco,Zenker Martin

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. Further evidence of genetic heterogeneity in Costello syndrome: Involvement of the KRAS gene;Bertola;J Hum Genet,2007

2. Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype;Carta;Am J Hum Genet,2006

3. Signaling interplay in Ras superfamily function;Mitin;Curr Biol,2005

4. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signaling pathway: Genotype-phenotype relationships and overlap with Costello syndrome;Nava;J Med Genet,2007

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1. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis;European Journal of Human Genetics;2024-06-01

2. Noonan syndrome‐like phenotype associated with an ERF frameshift variant;American Journal of Medical Genetics Part A;2024-05-14

3. Development of Calvarial Bone Osteomyelitis in a Noonan Syndrome Patient Following Fronto-Orbital Advancement of Craniosynostosis: A Novel Technique of Treatment Using Povidone and Hydrogen Peroxide Solutions;Cureus;2024-01-22

4. Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes;Frontiers in Endocrinology;2023-10-27

5. Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies;American Journal of Medical Genetics Part A;2023-09-29