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Results 1 - 10 of 11 for Craniosynostosis 2
  1. MSX2 gene 
    ... Tests of MSX2 PubMed MSH HOMEOBOX 2; MSX2 CRANIOSYNOSTOSIS 2; CRS2 NCBI Gene ClinVar Florisson JM, Verkerk AJ, Huigh D, Hoogeboom AJ, Swagemakers S, Kremer A, Heijsman D, Lequin MH, Mathijssen IM, van der Spek PJ. Boston type craniosynostosis: report of a second mutation in MSX2. Am ...
    https://medlineplus.gov/genetics/gene/msx2 - Genetics
  2. FGFR2 gene 
    ... Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. Int J Biol Sci. 2017 Nov 2;13(12):1479-1488. doi: 10.7150/ijbs. ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  3. PTCH1 gene 
    ... Hudgins L. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet A. 2012 Feb;158A(2):391-9. doi: 10.1002/ajmg.a.34216. ...
    https://medlineplus.gov/genetics/gene/ptch1 - Genetics
  4. SLC25A24 gene 
    ... U. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/slc25a24 - Genetics
  5. RECQL4 gene 
    ... Gillerot Y, Megarbane A, Verloes A. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet. 2006 Feb;43(2):148-52. doi: 10.1136/jmg.2005.031781. ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  6. EFNB1 gene 
    ... premature closure of certain bones of the skull (craniosynostosis) during ... who often have one or two features of the condition.Mutations in the EFNB1 ...
    https://medlineplus.gov/genetics/gene/efnb1 - Genetics
  7. KRAS gene 
    ... Hart RA, Martinez AF, Kruszka P, Muenke M. Craniosynostosis and Noonan ... Pathol. 2005 Feb;18 Suppl 2:S19-32. doi: 10.1038/modpathol.3800306. Citation ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  8. FGFR3 gene 
    ... premature joining of the bones of the skull (craniosynostosis), leading to a misshapen head and distinctive facial ... Muenke syndrome, which is a condition that causes craniosynostosis and leads to a misshapen head and distinctive ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  9. TWIST1 gene 
    ... by the premature fusion of certain skull bones (craniosynostosis), which prevents the skull from growing normally and ... also been found in several people with isolated craniosynostosis, which is a premature fusion of certain skull ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
  10. FGFR1 gene 
    ... premature fusion of certain bones in the skull (craniosynostosis). They may also lack teeth, or their teeth ... cause Pfeiffer syndrome. This condition is characterized by craniosynostosis, which leads to a misshapen head and distinctive ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
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