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Article

Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability.

European journal of medical genetics - 1 Apr 2020

Banihashemi Sara, Tahmasebi-Birgani Maryam, Mohammadiasl Javad, Hajjari Mohammadreza

Abstract excerpt

Intellectual disability (ID) is characterized by significant deficits in adaptive behaviors and cognitive functioning. The involvement of both genetic and environmental factors in pathogenesis of the ID, makes the diagnosis of the disease more complicated. Nowadays, the entrance of next generation sequencing (NGS) approaches has facilitated the discovery of causative genes in this genetically heterogeneous...

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PMID: 31978615
DOI: 10.1016/j.ejmg.2020.103846

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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