Pfeiffer syndrome can be subdivided into three clinical subtypes, with types two and three being more common. In addition to recurrent mutations in FGFR2 and the p.Pro250Arg mutation in FGFR3, the p.Pro252Arg mutation in FGFR1 has been reported in patients with Pfeiffer syndrome type 1
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis