A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma.
Hienonen
T
T
Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
Sammalkorpi
H
H
Isohanni
P
P
Versteeg
R
R
Karikoski
R
R
Aaltonen
L A
LA
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation; D006130:Growth Disorders / Q000150:complications / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D009367:Neoplasm Staging; D009447:Neuroblastoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D017384:Sequence Deletion; D013577:Syndrome