Nature

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis

Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are ...
Nature

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset ...

On the basis of the evidence above, our view is that the variants p.L868P and p.R7114W are highly unlikely to be causative of the complex and quite severe phenotype in the Korean family. It should ...