J Pediatr Neurosci
November 2020
Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral nervous system. We present the findings of three siblings who applied to us with the same clinical features. These patients were referred to our clinic due to the presence of bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy.
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