Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7.
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Cheng-Fang
CF
Li
Hsiang-Yu
HY
Lin
Hao-Chuan
HC
Liu
Sheng-Hung
SH
Lee
Ming-Yu
MY
Lo
Shuan-Pei
SP
Lin
Fu-Sung
FS
Lo
Dau-Ming
DM
Niu
D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D004252:DNA Mutational Analysis; D019066:Facies; D005260:Female; D006529:Hepatomegaly / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D009154:Mutation; D010641:Phenotype; D056730:Silver-Russell Syndrome / Q000175:diagnosis / Q000235:genetics*; D024182:Uniparental Disomy