Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients
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Background: Kaufman oculocerebrofacial syndrome (KOS; OMIM #244450)is a rare autosomal recessive disorder caused by pathogenic biallelic variants in UBE3B, characterized by craniofacial dysmorphism, global developmental delay, hy... ...
