Mosaic deletion of EXOC6B: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability

American Journal of Medical Genetics, Part A

Volumn 164, Issue 12, 2014, Pages 3088-3094

  Evers, Christina ^a   Maas, Bianca ^a   Koch, Karin A ^b   Jauch, Anna ^a   Janssen, Johannes W G ^a   Sutter, Christian ^a   Parker, Michael J ^c   Hinderhofer, Katrin ^a   Moog, Ute ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

2p13.2 deletion; Developmental delay; EXOC6B; Exocyst complex; Intellectual disability

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 2P13.2; DEVELOPMENTAL DISORDER; EXOC6B GENE; EXON; GENE; GENE DELETION; HUMAN; INTELLECTUAL IMPAIRMENT; INTERPHASE; MALE; METAPHASE; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SPEECH DELAY; CHROMOSOME 2; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; HAPLOINSUFFICIENCY; MULTIPLE MALFORMATION SYNDROME; PATHOPHYSIOLOGY; TURKEY;

EXOC6B PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 2; GENE DELETION; GTP-BINDING PROTEINS; HAPLOINSUFFICIENCY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; TURKEY;

EID: 84911072463     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36770     Document Type: Article

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