Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.
Sydney South West Genetic Service SEALS Molecular and Cytogenetics Laboratory, Department of Haematology and Genetics, Prince of Wales Hospital Department of Anatomical Pathology, Royal Prince Alfred Hospital Australian Craniofacial Unit, Adelaide University of Sydney, Australia.
Lucinda
L
Freeman
George
G
Elakis
Geoff
G
Watson
Glenda L
GL
Mullan
Peter J
PJ
Taylor
Peter
P
Anderson
Robert
R
Ogle
Michael F
MF
Buckley
Tony
T
Roscioli
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology; D000402:Airway Obstruction / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D014133:Tracheal Diseases / Q000235:genetics* / Q000473:pathology
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2