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Results 1 - 6 of 6 for Pfeiffer syndrome
  1. Pfeiffer syndrome 
    Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from ...
    https://medlineplus.gov/genetics/condition/pfeiffer-syndrome - Genetics
  2. FGFR1 gene 
    ... function" variants in the FGFR1 gene can cause Pfeiffer syndrome. This condition is characterized by craniosynostosis, which leads ... factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) FLG FLJ14326 FLT2 FMS-like gene FMS-like ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  3. FGFR2 gene 
    ... 25 mutations in the FGFR2 gene can cause Pfeiffer syndrome, a condition that causes craniosynostosis, leading to a ... K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013 Jan;24(1):150- ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  4. Shprintzen-Goldberg syndrome 
    ... Konig R, Mitulla B, Muller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S. Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  5. SCN5A gene 
    ... Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, ... for Brugada syndrome genetic testing. Heart Rhythm. 2010 Jan;7(1): ...
    https://medlineplus.gov/genetics/gene/scn5a - Genetics
  6. Nearsightedness 
    ... syndrome, it follows the inheritance pattern of that syndrome, most commonly autosomal dominant, autosomal ... Wojciechowski R, Hohn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ; Wellcome Trust Case Control Consortium ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics