Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Nature Genetics

Volumn 40, Issue 9, 2008, Pages 1065-1067

  Najm, Juliane ^a   Horn, Denise ^b   Wimplinger, Isabella ^a   Golden, Jeffrey A ^c   Chizhikov, Victor V ^d   Sudi, Jyotsna ^d   Christian, Susan L ^d   Ullmann, Reinhard ^e   Kuechler, Alma ^f   Haas, Carola A ^g   Flubacher, Armin ^g   Charnas, Lawrence R ^h   Uyanik, Gökhan ⁱ   Frank, Ulrich ^j   Klopocki, Eva ^b   Dobyns, William B ^d   Kutsche, Kerstin ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f UNIVERSITY HOSPITAL ESSEN   (Germany)

^g UNIVERSITY OF FREIBURG   (Germany)

^h UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

ⁱ UNIVERSITY OF REGENSBURG   (Germany)

^j KLINIKUM BRAUNSCHWEIG   (Germany)

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Author keywords

[No Author keywords available]

Indexed keywords

REELIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TBR1;

ANIMAL TISSUE; ARTICLE; BRAIN MALFORMATION; CASK GENE; CEREBELLUM HYPOPLASIA; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MOUSE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TBR1 GENE; X CHROMOSOME LINKED DISORDER;

BRAIN STEM; CEREBELLUM; CHILD, PRESCHOOL; EAR; FEMALE; GENETIC DISEASES, X-LINKED; GUANYLATE KINASE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MICROCEPHALY; MUTATION; SYNDROME;

EID: 50449089620     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.194     Document Type: Article

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