A Novel FGFR2 Mutation in Tyrosine Kinase II Domain, L617F, in Crouzon Syndrome

Author:

Suh Ye-Jin1,Bae Han-Sol2,Choi Jin-Young3,Lee Jong-Ho3,Kim Myung-Jin3,Kim Sukwha4,Ryoo Hyun-Mo2,Baek Seung-Hak1

Affiliation:

1. Department of Orthodontics; School of Dentistry and Dental Research Institute; Seoul National University; Seoul Republic of Korea

2. Department of Molecular Genetics; School of Dentistry and Dental Research Institute, BK21 Program, Seoul National University; Seoul Republic of Korea

3. Department of Oral and Maxillofacial Surgery; School of Dentistry and Dental Research Institute, Seoul National University; Seoul Republic of Korea

4. Department of Plastic Surgery; College of Medicine, Seoul National University; Seoul Republic of Korea

Publisher

Wiley

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference26 articles.

1. A case of FGFR2 exon IIIc mutation in Crouzon syndrome;Bae;Korean J Pediatr,1998

2. Molecular and cellular bases of syndromic craniosynostoses;Bonaventure;Expert Rev Mol Med,2003

3. Morphology and growth of the mandible in Crouzon, Apert, and Pfeiffer syndromes;Boutros;J Craniofac Surg,2007

4. Crouzon syndrome: Cephalometric analysis and evaluation of pathogenesis;Carinci;Cleft Palate Craniofac J,1994

5. A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome;de Ravel;Eur J Hum Genet,2005

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