Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.
Spruijt
L
L
Department of Genetics and Cell Biology, University Maastricht, Maastricht, The Netherlands. liesbeth.spruijt@freeler.nl
Hoefsloot
L H
LH
van Schaijk
G H W H
GH
van Waardenburg
D
D
Kremer
B
B
Brackel
H J L
HJ
de Die-Smulders
C E M
CE
D004252:DNA Mutational Analysis; D005660:Funnel Chest / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007818:Laryngeal Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D063173:Retrognathia / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases