Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways
about
sameAs
A Genetic-Pathophysiological Framework for CraniosynostosisMutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
P2860
Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways
description
article
@en
im November 2014 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в листопаді 2014
@uk
ലേഖനം
@ml
name
Severe craniosynostosis with N ...... GFR and RAS signaling pathways
@en
Severe craniosynostosis with N ...... GFR and RAS signaling pathways
@nl
type
label
Severe craniosynostosis with N ...... GFR and RAS signaling pathways
@en
Severe craniosynostosis with N ...... GFR and RAS signaling pathways
@nl
prefLabel
Severe craniosynostosis with N ...... GFR and RAS signaling pathways
@en
Severe craniosynostosis with N ...... GFR and RAS signaling pathways
@nl
P2093
P2860
P356
P1476
Severe craniosynostosis with N ...... GFR and RAS signaling pathways
@en
P2093
Chiharu Torii
Kazuo Kishi
Kenjiro Kosaki
Rika Kosaki
Takao Takahashi
Tomoru Miwa
Toshiki Takenouchi
Yoshiaki Sakamoto
P2860
P304
P356
10.1002/AJMG.A.36705
P407
P577
2014-11-01T00:00:00Z