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Oculocerebrofacial "syndrome," Kaufman type
- ... condition. Blepharophimosis-ptosis-intellectual disability syndrome BPIDS KOS Oculocerebrofacial syndrome, Kaufman type Genetic Testing Registry: Oculocerebrofacial syndrome, Kaufman type Oculocerebrofacial ...
- ... gene mutations have been identified in people with Kaufman oculocerebrofacial syndrome, which is a disorder characterized by eye problems ( ... G. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet. 2014 Jul; ...
