Pleiotropy
Smooth Endoplasmic Reticulum
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1Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an 710004, China.
沃尔夫拉姆样综合征是一种自体主导性疾病,由于WFS1基因突变而导致视力和听力损失. 这一案例突出了被诊断患有这种罕见疾病的儿童的新突变.
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