Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
Houweling
A C
AC
de Mooij
Y M
YM
van der Burgt
I
I
Yntema
H G
HG
Lachmeijer
A M A
AM
Go
A T J I
AT
D000025:Abortion, Eugenic; D000328:Adult; D000649:Amniocentesis; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics* / Q000378:metabolism; D011518:Proto-Oncogene Proteins / Q000235:genetics* / Q000378:metabolism; D016283:Proto-Oncogene Proteins p21(ras); D016216:Ultrasonography, Prenatal; D018631:ras Proteins / Q000235:genetics* / Q000378:metabolism
C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins