TY  - GEN
AU  - Mignot,Cyril
AU  - Héron,Delphine
AU  - Bursztyn,Joseph
AU  - Momtchilova,Marta
AU  - Mayer,Michèle
AU  - Whalen,Sandra
AU  - Legall,Anne
AU  - Billette de Villemeur,Thierry
AU  - Burglen,Lydie
TI  - Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum
SN  - 1872-7131
PY  - 2013///0626
KW  - Ataxia
KW  - etiology
KW  - Atrophy
KW  - Cerebellar Diseases
KW  - genetics
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - Disease Progression
KW  - Electroencephalography
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - X-Linked Intellectual Disability
KW  - Mutation
KW  - Retinal Degeneration
KW  - Retinitis Pigmentosa
KW  - Sodium-Hydrogen Exchangers
KW  - Syndrome
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.braindev.2012.03.010
ER  -