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Pfeiffer syndrome
- ... 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 ...
- ... 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- ...
- ... 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): ...