Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …

Pediatric-onset ataxias often present clinically as developmental delay and intellectual
disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we …

Background Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by
mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and …

Background Primordial dwarfism is a state of extreme prenatal and postnatal growth
deficiency, and is characterized by marked clinical and genetic heterogeneity. Results Two …

Background Hereditary spastic paraplegia is a neurodegenerative phenotype characterized
by a progressive loss of corticospinal motor tract function. In a majority of affected …

PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal
outgrowth and synapse formation in Drosophila melanogaster. By exome and genome …

Objective A study was undertaken to characterize the clinical features of the newly described
hypomyelinating leukodystrophy type 10 with microcephaly. This is an autosomal recessive …

Autosomal recessive primary microcephaly (MCPH) is an abnormal proliferation of neurons
during brain development that leads to a small brain size but architecturally normal in most …

MAD2L1BP-encoded p31 comet mediates Trip13-dependent disassembly of Mad2-and
Rev7-containing complexes and, through this antagonism, promotes timely spindle assembly …

Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism
type I. It encodes U4atac, a small nuclear RNA that is a component of the minor spliceosome…