PMC Links for OMIM (Select 616271) - PMC

Result Filters

Links from OMIM

Items: 3

Select item 93255561.

Biallelic CLPB mutation associated with isolated neutropenia and 3‐MGA‐uria

Beatrice Rivalta, Alessandra Torraco, Diego Martinelli, Matteo Luciani, Rosalba Carrozzo, Andrea Finocchi

Pediatr Allergy Immunol. 2022 May; 33(5): e13782. Published online 2022 May 12. doi: 10.1111/pai.13782

PMCID:: PMC9325556

Article PDF–1.4M

Select item 43202602.

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 Lücke, Katrin 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

Am J Hum Genet. 2015 Feb 5; 96(2): 245–257. doi: 10.1016/j.ajhg.2014.12.013

PMCID:: PMC4320260

Abstract Article PDF–1.3M

Select item 43202543.

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

Carol Saunders, Laurie Smith, Flemming Wibrand, Kirstine Ravn, Peter Bross, Isabelle Thiffault, Mette Christensen, Andrea Atherton, Emily Farrow, Neil Miller, Stephen F. Kingsmore, Elsebet Ostergaard

Am J Hum Genet. 2015 Feb 5; 96(2): 258–265. doi: 10.1016/j.ajhg.2014.12.020