Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

Neurogenetics

Volumn 17, Issue 3, 2016, Pages 159-164

  Steinfeld, Hallie ^a   Cho, Megan T ^b   Retterer, Kyle ^b   Person, Rick ^b   Schaefer, G Bradley ^c   Danylchuk, Noelle ^c   Malik, Saleem ^d   Wechsler, Stephanie Burns ^e   Wheeler, Patricia G ^f   van Gassen, Koen L I ^g   Terhal, P A ^g   Verhoeven, Virginie J M ^h   van Slegtenhorst, Marjon A ^h   Monaghan, Kristin G ^b   Henderson, Lindsay B ^b   Chung, Wendy K ^a  

^a Department of Medicine   (United States)

^b GENEDX   (United States)

^c ARKANSAS CHILDREN S HOSPITAL   (United States)

^d Cook Children’s Neurology ^*  (United States)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f NEMOURS CHILDREN S HOSPITAL   (United States)

^g UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^h ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

De novo; Developmental Delay; HIVEP2; Intellectual Disability; Whole exome sequencing

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS TYPE I ENHANCER BINDING PROTEIN 2 GENE; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WHOLE EXOME SEQUENCING; BODY DYSMORPHIC DISORDER; COMPLICATION; GENETICS; MUTATION;

DNA BINDING PROTEIN; HIVEP2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; BODY DYSMORPHIC DISORDERS; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; TRANSCRIPTION FACTORS; WHOLE EXOME SEQUENCING;

EID: 84961841957     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-016-0479-z     Document Type: Article

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