Associated Papers
Bilateral Foramina Parietalia Permagna - A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review.
Kahl N et al.
Neuropediatrics, 2024
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
37154149 (PubMed )
Supplement: mmc2.pdf
Regulation of VKORC1L1 is critical for p53-mediated tumor suppression through vitamin K metabolism.
Yang X et al.
Cell Metabolism, 2023
p53 Represses the Mevalonate Pathway to Mediate Tumor Suppression.
Moon SH et al.
Cell, 2019
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
Janssen A et al.
American Journal of Medical Genetics. Part A, 2013
Msx1 mutations: how do they cause tooth agenesis?
Wang Y et al.
Journal of Dental Research, 2011
The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation.
Yoon WJ et al.
The Journal of Biological Chemistry, 2008
A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP).
Spruijt L et al.
American Journal of Medical Genetics. Part A, 2005
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.
Wuyts W et al.
Human Molecular Genetics, 2000
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.
Wilkie AO et al.
Nature Genetics, 2000
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