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 of t
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome
✍ Scribed by Andreas Zankl; Gudrun Jaeger; Luisa Bonafé; Eugen Boltshauser; Andrea Superti-Furga
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 60 KB
- Volume
- 131A
- Category
- Article
- ISSN
- 1552-4825
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