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

Saskia B. Wortmann*, Szymon Zietkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Soren 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 LueckeKatrin Ounap, Riina Zordania, Joy Yaplito-Lee, Hans van Bokhoven, Johannes N. Spelbrink, Frederic 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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)245-257
JournalAmerican Journal of Human Genetics
Volume96
Issue number2
DOIs
Publication statusPublished - 5 Feb 2015

Cite this