Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation

Most balanced chromosomal aberrations are not associated with a clinical phenotype, however, in some patients they may disrupt gene structure. With the development of various next-generation sequencing techniques, fast and specific analyses of the breakpoint regions of chromosomal rearrangements are...

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Bibliographic Details
Published in:	European journal of human genetics : EJHG Vol. 21; no. 10; pp. 1177 - 1180
Main Authors:	Frühmesser, Anne, Blake, Jonathon, Haberlandt, Edda, Baying, Bianka, Raeder, Benjamin, Runz, Heiko, Spreiz, Ana, Fauth, Christine, Benes, Vladimir, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter
Format:	Journal Article
Language:	English
Published:	England Nature Publishing Group 01-10-2013
Subjects:	Abnormalities, Multiple - genetics Abnormalities, Multiple - metabolism Age Alu elements Autism Behavior Breakpoints Chromosome 19 Chromosome 8 Chromosome aberrations Chromosome Breakpoints Chromosome rearrangements Chromosomes Chromosomes, Human, Pair 2 - genetics Chromosomes, Human, Pair 8 - genetics Developmental Disabilities - genetics Developmental Disabilities - metabolism Epilepsy Epilepsy - genetics Epilepsy - metabolism Female Genetic counseling Genetics Genomes Genotype & phenotype GTP-Binding Proteins - genetics GTP-Binding Proteins - metabolism Homology Humans Intellectual development Intellectual disabilities Laboratories Lymphocytes Lymphocytes - metabolism Molecular biology Mouth Mucosa - metabolism Mutation Patients Phenotypes Short Report Syndrome Translocation, Genetic Young Adult Austria Germany
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