In this study, a novel homozygous variant in KIFBP gene was identified in a consanguineous family with Goldberg-Sphrintzen Syndrome (GOSHS), leading to early-adulthood-onset progressive ataxia, opthalmoparesis, and hypogonadotropic hypogonadism.
A novel homozygous variant in KIFBP was identified in a consanguineous family with four sibs affected by Goldberg-Sphrintzen Syndrome (GOSHS). We report for the first time, early-adulthood-onset progressive ataxia, opthalmoparesis, and hypogonadotropic hypogonadism in GOSHS.
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