Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.

Mignot, Cyril

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. [electronic resource] - Brain & development Feb 2013 - 172-6 p. digital

Publication Type: Journal Article

1872-7131

10.1016/j.braindev.2012.03.010 doi


Ataxia--etiology
Atrophy
Cerebellar Diseases--genetics
Codon, Nonsense--genetics
DNA Mutational Analysis
Disease Progression
Electroencephalography
Humans
Magnetic Resonance Imaging
Male
X-Linked Intellectual Disability--genetics
Mutation--genetics
Retinal Degeneration--etiology
Retinitis Pigmentosa--genetics
Sodium-Hydrogen Exchangers--genetics
Syndrome
Young Adult