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A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene

Min Young Lee, Ga Won Jeon, Ji Mi Jung, Jong Beom Sin

Clin Exp Pediatr. 2010;53(7):774-777. Published online July 31, 2010

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome....

DOI: https://doi.org/10.3345/kjp.2010.53.7.774

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