Loss-of-function variants in HIVEP2 are a cause of intellectual disability

European Journal of Human Genetics

Volumn 24, Issue 4, 2016, Pages 556-561

  Srivastava, Siddharth ^a,b   Engels, Hartmut ^c   Schanze, Ina ^d   Cremer, Kirsten ^c   Wieland, Thomas ^e   Menzel, Moritz ^f   Schubach, Max ^f   Biskup, Saskia ^f,g   Krei, Martina ^c   Endele, Sabine ^h   Strom, Tim M ^e   Wieczorek, Dagmar ⁱ   Zenker, Martin ^d   Gupta, Siddharth ^a   Cohen, Julie ^a   Zink, Alexander M ^c   Naidu, SakkuBai ^a,b  

^a KENNEDY KRIEGER INSTITUTE   (United States)

^b JOHNS HOPKINS HOSPITAL   (United States)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f CEGAT GMBH   (Germany)

^g GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^h UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

ⁱ UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; CREATINE KINASE; HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER BINDING PROTEIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; DNA BINDING PROTEIN; HIVEP2 PROTEIN, HUMAN; STOP CODON; TRANSCRIPTION FACTOR;

ADULT; ALLELE; ARTICLE; BODY DYSMORPHIC DISORDER; BODY WEIGHT; BRAIN MALFORMATION; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; DISTRACTIBILITY; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GESTURE; HEAD CIRCUMFERENCE; HUMAN; HYPERACTIVITY; HYPERMETROPIA; IMPULSIVENESS; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MUSCLE HYPOTONIA; MUSCLE TONE; NONSENSE MEDIATED MRNA DECAY; PATHOGENESIS; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SIGN LANGUAGE; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; YOUNG ADULT; EXOME; GENETICS; INFANT; INTELLECTUAL DISABILITY; STOP CODON;

CHILD, PRESCHOOL; CODON, NONSENSE; DNA-BINDING PROTEINS; EXOME; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84960458253     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.151     Document Type: Article

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