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PedAM

Pediatric Disease Annotations & Medicines




Disease n syndrome
Phenotype C0004352|autism
Sentences 6
PubMedID- 20678247 A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.
PubMedID- 21789598 autism with 15q duplication syndrome was first reported as partial trisomy of chromosome 15 (gillberg et al.
PubMedID- 21484597 A developmental picture is now emerging whereby ube3a gene dosage on chromosome 15 alters synaptic function, with deficiencies leading to angelman syndrome and overexpression associated with classic autism symptomatology.
PubMedID- 22234155 autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
PubMedID- 22048961 Association of gtf2i in the williams-beuren syndrome critical region with autism spectrum disorders.
PubMedID- 26583039 To the best of our knowledge, there are no case studies of serotonin syndrome (ss) in patients with autism spectrum disorder.

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