3-Dimensional Modeling Method

Author(s):  
Hiroshi Toriya ◽  
Hiroaki Chiyokura

2004 ◽  
Vol 17 (4) ◽  
pp. 393-400 ◽  
Author(s):  
M KOVLER ◽  
K LUNDON ◽  
N MCKEE ◽  
A AGUR


Author(s):  
John G. Forte ◽  
Joseph G. Duman ◽  
Nimesh J. Pathak ◽  
Kent L. Mcdonald


2020 ◽  
Vol 6 (9) ◽  
pp. 588-590
Author(s):  
Mirvat Alasnag ◽  
Raed Sweidan ◽  
Yousef Nosir ◽  
Fayez Bokhari ◽  
Khaled Al-Shaibi




2018 ◽  
Vol 6 (9) ◽  
pp. 232596711879464 ◽  
Author(s):  
Sean Childs ◽  
Zachary McVicker ◽  
Ryan Trombetta ◽  
Hani Awad ◽  
John Elfar ◽  
...  


2019 ◽  
Vol 56 (10) ◽  
pp. 1386-1392
Author(s):  
Karel-Bart Celie ◽  
Melissa Yuan ◽  
Christopher Cunniff ◽  
Jarrod Bogue ◽  
Caitlin Hoffman ◽  
...  

Little is currently known about the mechanisms by which pathogenic variants of FGFR2 produce changes in the FGFR protein and influence the clinical presentation of affected individuals. We report on a patient with a de novo pathogenic variant of FGFR2 and a phenotype consistent with Jackson-Weiss syndrome who presented with delayed, rapidly progressive multisutural craniosynostosis and associated medical complications. Using 3-dimensional modeling of the FGFR protein, we provide evidence that this variant resulted in abnormal dimerization and constitutive activation of FGFR, leading to the Jackson-Weiss phenotype. Knowledge regarding the correlation between genotype and phenotype of persons with FGFR2-related craniosynostosis has the potential to allow for anticipation of medical complications, institution of early treatment, and improved clinical outcomes.



EP Europace ◽  
2018 ◽  
Vol 20 (suppl_1) ◽  
pp. i191-i192
Author(s):  
B Lim ◽  
M Hwang ◽  
J S Song ◽  
A J Ryu ◽  
B Joung ◽  
...  


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