CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Reference

Wortmann, Saskia B., et al. “CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder”. The American Journal of Human Genetics, vol. 96, no. 2, Jan. 2015, pp. 245–257, https://doi.org/10.1016/j.ajhg.2014.12.013.

PubMed Reference Number (PMID)

25597510