Research Studies Archive
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome
Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome
Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability
A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans
Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
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