PTPN11 mutation in a young man with Noonan syndrome and retinitis pigmentosa.
Schollen
E
E
Matthijs
G
G
Fryns
J F
JF
D000328:Adult; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009634:Noonan Syndrome / Q000150:complications / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases