Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.
Blaumeiser
Bettina
B
Department of Medical Genetics, University Hospital and University of Antwerp, Antwerp, Belgium.
Oehl-Jaschkowitz
Barbara
B
Borozdin
Wiktor
W
Kohlhase
Jürgen
J
D002675:Child, Preschool; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D020125:Mutation, Missense; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014430:Twins, Monozygotic
C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins