– Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms
– Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases
– Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
– Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
– Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
Polimorfismos, variantes, mutaciones: enfermedades neurodegenerativas
Filed under Diagnóstico, Neurogenética, Neurología, Polimorfismos by on . 
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