title: Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.
authors.forename: J S
authors.initials: JS
authors.lastname: Lee
authors.forename: M
authors.initials: M
authors.lastname: Tartaglia
authors.forename: B D
authors.initials: BD
authors.lastname: Gelb
authors.forename: K
authors.initials: K
authors.lastname: Fridrich
authors.forename: S
authors.initials: S
authors.lastname: Sachs
authors.forename: C A
authors.initials: CA
authors.lastname: Stratakis
authors.forename: M
authors.initials: M
authors.lastname: Muenke
authors.forename: P G
authors.initials: PG
authors.lastname: Robey
authors.forename: M T
authors.initials: MT
authors.lastname: Collins
authors.forename: A
authors.initials: A
authors.lastname: Slavotinek
mesh_terms: 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*
chemical_list: 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