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Hypomyelination and congenital cataract: Three siblings presentation
Karalök, Zeynep Selen; Gürkaş Esra; Aydın, Kürşad; Ceylaner, Serdar (Wolters Kluwer Medknow Publications, 2020)Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the FAM126A gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both ...