GSM1138980[Accession] - GEO DataSets

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Items: 4

Select item 2000468331.

De novo mutations in the genome organizer CTCF cause Intellectual Disability

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing

Platforms:: GPL13393 GPL11154
12 Samples

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Series

Accession:: GSE46833

ID:: 200046833

PubMed Full text in PMC Similar studies

Select item 2000468312.

De novo mutations in the genome organizer CTCF cause Intellectual Disability (RNA-Seq)

(Submitter supplied) An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in the CTCF gene in individuals with intellectual disability, microcephaly and growth retardation. more...