A Hemizygous 370 Kilobase Microduplication at Xq13.1 in a Three-Year-Old Boy With Autism and Speech Delay.

CONCLUSION: NLGN3, TAF1, and MED12 alterations, located on Xq13.1, have been associated with ASD. TAF and MED12 have other clinical features not present in our case. This supports that duplication of NLGN3 may be associated with ASD. PMID: 30757938 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research