CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
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author: Thomas Meitinger, Nicholas Katsanis, Christelle Golzio, Johannes N Spelbrink, Richard J Rodenburg, Clara van Karnebeek, Szymon Ziętkiewicz, Holger Prokisch, Ewa Pronicka, Katrin Õunap, Christine Klein, Rafał Płoski, Frédéric M Vaz, Joy Yaplito-Lee, Tobias B Haack, Tim M Strom, Felix Distelmaier, Saskia B Wortmann, Radek Szklarczyk, Hans van Bokhoven, Arjan P M de Brouwer, Ron A. Wevers, Søren W Gersting, Ania Muntau
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