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A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

5 Mar 2019

Abstract excerpt

We describe a large consanguineous pedigree from a remote area of Northern Pakistan, with a complex developmental disorder associated with wide-ranging symptoms, including mental retardation, speech and language impairment and other neurological, psychiatric, skeletal and cardiac abnormalities. We initially carried out a genetic study using the HumanCytoSNP-12 v2.1 Illumina gene chip on nine family members and...

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PMID: 30968111
DOI: 10.1093/brain/awz075

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