<i>TWNK</i> Gene Associated Perrault Syndrome Patient with Neurological Features
نویسندگان
چکیده
Perrault syndrome 5 is a rare autosomal recessive disorder that characterized by the association of sensorineural hearing loss and ovarian dysgenesis in females with diversity neurologic deficits due to variants twinkle mtDNA helicase (<i>TWNK</i>) gene. Since develop gradually, patient often misdiagnosed other neurological disease during early age. Herein, we report case genetically diagnosed 5.
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ژورنال
عنوان ژورنال: Journal of the Korean neurological association
سال: 2023
ISSN: ['1225-7044', '2288-985X']
DOI: https://doi.org/10.17340/jkna.2023.2.6