Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation.
Sam
W
W
Qin
H
H
Crawford
B
B
Yue
D
D
Yu
S
S
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