CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Saskia B. Wortmann*, Szymon Ziętkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Søren W. Gersting, Ania C. Muntau, Aleksandar Rakovic, G. Herma Renkema, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, M. Estela Rubio-Gozalbo, Elzbieta Chrusciel, Felix Distelmaier, Christelle Golzio, Joop H. Jansen, Clara Van Karnebeek, Yolanda Lillquist, Thomas LückeKatrin Õunap, Riina Zordania, Joy Yaplito-Lee, Hans Van Bokhoven, Johannes N. Spelbrink, Frédéric M. Vaz, Mia Pras-Raves, Rafal Ploski, Ewa Pronicka, Christine Klein, Michel A.A.P. Willemsen, Arjan P.M. De Brouwer, Holger Prokisch, Nicholas Katsanis, Ron A. Wevers

*Corresponding author for this work
25 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry