No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome.
Tröger
Birte
B
Kutsche
Kerstin
K
Bolz
Hanno
H
Lüttgen
Sabine
S
Gal
Andreas
A
Almassy
Zsuzsanna
Z
Caliebe
Almuth
A
Freisinger
Peter
P
Hobbiebrunken
Elke
E
Morlot
Michel
M
Stefanova
Margarita
M
Streubel
Berthold
B
Wieczorek
Dagmar
D
Meinecke
Peter
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins; D009634:Noonan Syndrome / Q000235:genetics*; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012868:Skin Abnormalities / Q000235:genetics; D013577:Syndrome
D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases