Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

American Journal of Human Genetics

Volumn 75, Issue 6, 2004, Pages 1149-1154

  Tao, Jiong ^a,f   Van Esch, Hilde ^b   Hagedorn Greiwe, M ^c   Hoffmann, Kirsten ^a   Moser, Bettina ^a   Raynaud, Martine ^d   Sperner, Jürgen ^c   Fryns, Jean Pierre ^b   Schwinger, Eberhard ^c   Gécz, Jozef ^e   Ropers, Hans Hilger ^a   Kalscheuer, Vera M ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b Clinical Genetics Unit   (Belgium)

^c UNIVERSITY OF LÜBECK   (Germany)

^d CHU BRETONNEAU   (France)

^e UNIVERSITY OF ADELAIDE   (Australia)

^f SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 5; CYCLIN DEPENDENT KINASE LIKE 5; PROTEIN KINASE; UNCLASSIFIED DRUG;

ARTICLE; CDKL5 STK9 GENE; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; EARLY ONSET INFANTILE SPASM; ENZYME ACTIVITY; FEMALE; GENE; GENE MUTATION; HAPPY PUPPET SYNDROME; HUMAN; INFANTILE SPASM; MALE; MECP2 GENE; MENTAL DEFICIENCY; MISSENSE MUTATION; NEURODEVELOPMENTAL RETARDATION; NEUROPATHOLOGY; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RETT SYNDROME; X CHROMOSOME LINKAGE;

EID: 8844252981     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/426460     Document Type: Article

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