A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia.
Baynam
Gareth
G
Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, School of Paediatrics and Child Health, University of WA, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au
Smith
Nicholas
N
Goldblatt
Jack
J
D000168:Acrocephalosyndactylia / Q000196:embryology / Q000235:genetics*; D005260:Female; D005313:Fetal Death / Q000235:genetics*; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D017354:Point Mutation; D011247:Pregnancy; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2