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Accession IconSRP074749

Unexpected Innovative Early Diagnosis in Autism Spectrum Disorder: Premature Tooth Eruption in ADNP-Mutated Children

Organism Icon Homo sapiens
Sample Icon 16 Downloadable Samples
Technology Badge IconIllumina HiSeq 2500

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Description
The discovery of activity-dependent neuroprotective protein (ADNP) regulated tooth eruption in mice and man, provides, for the first time, an early detection of tooth eruption, with full or almost full mouth of teeth at one year of age, as a potential biomarker for an intellectual disability (ID)/autism spectrum disorder (ASD) syndrome, toward improved translational medicine. Overall design: RNAseq of 4 samples, comparing three ADNP-mutated lymphoblastoid cell lines (LCLs, derived from ADNP-mutated children) with a non-mutated cell line. No replicates were performed but results were verified usign RT-PCR.
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16
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