Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report
Abstract Background Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP, ERAL1, HARS2, HSD17B4, LARS2, and TWNK genes. All reported cases d...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
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BMC,
2023-11-01T00:00:00Z.
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