Article
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
American journal of medical genetics - 23 Jan 1998
Schaefer F, Anderson C, Can B, Say B
Abstract excerpt
We have studied an infant with cloverleaf skull, proptosis, radioulnar synostosis and broad thumbs and great toes diagnosed as Pfeiffer syndrome type 2. However, there were many overlapping findings with Antley-Bixler syndrome. The patient was found to have a G to T mutation in codon 290 exon 7 o...
Topics
- Acrocephalosyndactylia
- Amino Acid Sequence
- Codon
- Craniofacial Dysostosis
- Cysteine
- Exons
- Female
- Humans
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Receptor Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 2
- Receptors, Fibroblast Growth Factor
- Tryptophan