Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.
Freeman
Lucinda
L
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.
Elakis
George
G
Watson
Geoff
G
Mullan
Glenda L
GL
Taylor
Peter J
PJ
Anderson
Peter
P
Ogle
Robert
R
Buckley
Michael F
MF
Roscioli
Tony
T
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