An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes.
Balci
S
S
Engiz
O
O
Erekul
A
A
Gozdasoglu
S
S
Vulliamy
T
T
D000293:Adolescent; D018797:Cell Cycle Proteins / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D012313:RNA / Q000235:genetics*; D019098:Telomerase / Q000235:genetics*
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; C422952:telomerase RNA; D012313:RNA; C509186:TERT protein, human; D019098:Telomerase