A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D
Kabuki syndrome (KS) and spinocerebellar ataxia (SCA) are both rare conditions with neurodevelopmental abnormalities. Approaching a patient with complex phenotypes and differentiating the role of mutations may be beneficial but challenging in predicting the disease prognosis.
Source: Brain and Development - Category: Neurology Authors: Yu-Ming Chang, Yu-Wen Pan, Yen-Yin Chou, Wen-Hao Yu, Meng-Che Tsai Tags: Case Report Source Type: research