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Results 1 - 10 of 10 for Craniosynostosis 4
  1. SLC25A24 gene 
    ... U. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with ... SCaMC Carrier. Structure. 2015 Aug 4;23(8):1394-1403. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/slc25a24 - Genetics
  2. MSX2 gene 
    ... Mathijssen IM, van der Spek PJ. Boston type craniosynostosis: report of a second ... Childs Nerv Syst. 2013 Apr;29(4):543-7. doi: 10.1007/s00381-012-1982- ...
    https://medlineplus.gov/genetics/gene/msx2 - Genetics
  3. PTCH1 gene 
    ... 2. Erratum In: Hum Genet 2002 Oct;111(4-5):464. Citation on PubMed Muller ... hydrocephalus, macrosomia, and developmental delay. Am J Med ...
    https://medlineplus.gov/genetics/gene/ptch1 - Genetics
  4. FGFR2 gene 
    ... premature closure of the bones of the skull (craniosynostosis), leading to a misshapen head, distinctive facial features, ... Stevenson cutis gyrata syndrome, a condition that causes craniosynostosis, leading to a misshapen head and distinctive facial ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  5. 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
  6. RECQL4 gene 
    ... including the abnormal fusion of certain skull bones (craniosynostosis), small stature, missing thumbs or bones in the ... Gillerot Y, Megarbane A, Verloes A. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  7. 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
  8. 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
  9. FBN1 gene 
    ... J, Bennetts B. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. Am J Med Genet ... Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Four novel FBN1 mutations: significance for mutant transcript level ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  10. KRAS gene 
    ... Hart RA, Martinez AF, Kruszka P, Muenke M. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the ... diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. ...
    https://medlineplus.gov/genetics/gene/kras - Genetics