Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.
Lee
J S
JS
Tartaglia
M
M
Gelb
B D
BD
Fridrich
K
K
Sachs
S
S
Stratakis
C A
CA
Muenke
M
M
Robey
P G
PG
Collins
M T
MT
Slavotinek
A
A
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D002636:Cherubism / Q000175:diagnosis; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D015726:Giant Cells / Q000473:pathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; D047908:Intracellular Signaling Peptides and Proteins; C109073:SH3BP2 protein, human; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases