A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.
Faculty of Medicine, Division of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Esra
E
Kilic
Gökhan
G
Yigit
Gülen Eda
GE
Utine
Bernd
B
Wollnik
Ercan
E
Mihci
Banu Güzel
BG
Nur
Koray
K
Boduroglu
D004252:DNA Mutational Analysis; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation; D012342:RNA, Small Nuclear / Q000235:genetics*
D012342:RNA, Small Nuclear; C000590616:RNU4ATAC RNA, human