Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.
Departments of Pediatrics Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
Ellen A
EA
Croonen
Helger G
HG
Yntema
Rick
R
van Minkelen
Ans M W
AMW
van den Ouweland
Ineke
I
van der Burgt
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics*