Ontology highlight
ABSTRACT:
SUBMITTER: Jay S
PROVIDER: S-EPMC3652025 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Jay Sally S Wiberg Akira A Swan Marc M Lester Tracy T Williams Louise J LJ Taylor Indira B IB Johnson David D Wilkie Andrew O M AO
American journal of medical genetics. Part A 20130326 5
Pfeiffer syndrome is an autosomal dominant condition classically combining craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a small number of cases can be attributed to mutations outside this region of the protein. A mild form of Pfeiffer syndrome can rarely be caused by a specific mutation in FGFR1. We report on the clinical and genetic findings in a three ge ...[more]