Identification of an individual with a SYGNAP1 pathogenic mutation in India.

In this report, we discuss the finding of a novel mutation in one of the genes, SYNGAP1, implicated in ASD/ID. Besides, we discuss the current treatment prescribed to the patient and the progress of global developmental of the child. PMID: 33090308 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/33090308?dopt=Abstract

Source: Molecular Biology Reports - October 22, 2020 Category: Molecular Biology Authors: Verma V, Mandora A, Botre A, Clement JP Tags: Mol Biol Rep Source Type: research