Article
A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
The Southeast Asian journal of tropical medicine and public health - 1 Jun 2001
Shotelersuk V, Srivuthana S, Ittiwut C, Theamboonlers A, Mahatumarat C, Poovorawan Y
Abstract excerpt
Pfeiffer syndrome, an autosomal dominant disorder, consists of craniosynostosis, broadening of the thumbs and great toes, and partial soft tissue syndactyly of the hands and feet. Three clinical subtypes have been classified mainly for the purpose of genetic counseling. Mutations in FGFR1 and FGFR2 are known to be associated with the syndrome. However, the correlation between genotype and phenotype is not well...
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