Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation.
W
W
Sam
H
H
Qin
B
B
Crawford
D
D
Yue
S
S
Yu
D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006720:Homozygote; D006801:Humans; D010641:Phenotype; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D014929:Wolfram Syndrome / Q000235:genetics* / Q000503:physiopathology