De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

American Journal of Human Genetics

Volumn 97, Issue 3, 2015, Pages 493-500

  Hempel, Maja ^a   Cremer, Kirsten ^b   Ockeloen, Charlotte W ^c   Lichtenbelt, Klaske D ^d   Herkert, Johanna C ^e   Denecke, Jonas ^a   Haack, Tobias B ^f,g   Zink, Alexander M ^b   Becker, Jessica ^b   Wohlleber, Eva ^b   Johannsen, Jessika ^a   Alhaddad, Bader ^g   Pfundt, Rolph ^c   Fuchs, Sigrid ^a   Wieczorek, Dagmar ^h   Strom, Tim M ^f,g   Van Gassen, Koen L I ^d   Kleefstra, Tjitske ^c   Kubisch, Christian ^a   Engels, Hartmut ^b   Lessel, Davor ^a   more..

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f INSTITUTE OF EPIDEMIOLOGY   (Germany)

^g TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^h UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHAMP1 GENE; CHROMOSOME; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FACE DYSMORPHIA; FRAMESHIFT MUTATION; GENE; GENE LOCATION; HUMAN; INTELLECTUAL IMPAIRMENT; MITOSIS SPINDLE; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; NONSENSE MUTATION; PATHOGENICITY; PRIORITY JOURNAL; SPEECH DISORDER; CASE REPORT; DNA SEQUENCE; FEMALE; GENETICS; MALE; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY; STOP CODON;

CHAMP1 PROTEIN, HUMAN; NONHISTONE PROTEIN; PHOSPHOPROTEIN; STOP CODON;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHROMOSOMAL PROTEINS, NON-HISTONE; CODON, NONSENSE; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; PHOSPHOPROTEINS; SEQUENCE ANALYSIS, DNA; SPEECH DISORDERS;

EID: 84940981796     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.08.003     Document Type: Article

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