Novel SLC9A6 mutations in two families with Christianson syndrome.

Abnormalities, Multiple/genetics/pathology; Ataxia/pathology; DNA Mutational Analysis; Family Health; Female; Genetic Diseases, X-Linked/genetics/pathology; Genetic Predisposition to Disease/genetics; Humans; Intellectual Disability/pathology; Male; Microcephaly/pathology; Mutation; Pedigree; Seizures/pathology; Sex Factors; Sodium-Hydrogen Antiporter/genetics; Syndrome

Research center :

- Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)

Disciplines :

Genetics & genetic processes

Author, co-author :

Riess, A.

Rossier, E.

Krüger, Rejko ; University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit

Dufke, A.

Beck-Woedl, S.

Horber, V.

Alber, M.

Glaser, D.

Riess, O.

Tzschach, A.

Language :

English

Title :

Novel SLC9A6 mutations in two families with Christianson syndrome.

Publication date :

2013

Journal title :

Clinical Genetics

ISSN :

1399-0004

Publisher :

Wiley, Oxford, United Kingdom

Volume :

Issue :

Pages :

596-7

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBilu :

since 02 July 2014

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