Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

M. C. Braunisch, H. Gallwitz, A. Abicht, I. Diebold, E. Holinski-Feder, L. Van Maldergem, M. Lammens, R. Kovács-Nagy, B. Alhaddad, T. M. Strom, T. Meitinger, J. Senderek, S. Rudnik-Schöneborn, T. B. Haack

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Fingerprint

Dive into the research topics of 'Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I'. Together they form a unique fingerprint.

Keyphrases

Neuroscience

Biochemistry, Genetics and Molecular Biology