Severe craniosynostosis with Noonan syndrome phenotype associated withSHOC2mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways-Reference-Cited by-同舟云学术

Severe craniosynostosis with Noonan syndrome phenotype associated withSHOC2mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways

Published:2014-08-13 Issue:11 Volume:164 Page:2869-2872
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Takenouchi Toshiki¹,Sakamoto Yoshiaki²,Miwa Tomoru³,Torii Chiharu⁴,Kosaki Rika⁵,Kishi Kazuo²,Takahashi Takao¹,Kosaki Kenjiro⁴

Affiliation:

1. Department of Pediatrics; Keio University School of Medicine; Tokyo Japan

2. Department of Plastic and Reconstructive Surgery; Keio University School of Medicine; Tokyo Japan

3. Department of Neurosurgery; Keio University School of Medicine; Tokyo Japan

4. Center for Medical Genetics; Keio University School of Medicine; Tokyo Japan

5. Division of Medical Genetics; National Center for Child Health and Development; Tokyo Japan

Funder

Research on Applying Health Technology from the Ministry of Health, Labour and Welfare, Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses;Agochukwu;Childs Nerv Syst,2012

2. KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis;Brasil;Am J Med Genet A,2012

3. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair;Cordeddu;Nat Genet,2009

4. Osf2/Cbfa1: A transcriptional activator of osteoblast differentiation;Ducy;Cell,1997

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