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Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

Gene - 20 Mar 2017

van der Werf Ilse M, Van Dijck Anke, Reyniers Edwin, Helsmoortel Céline, Kumar Ajay Anand, Kalscheuer Vera M, de Brouwer Arjan Pm, Kleefstra Tjitske, van Bokhoven Hans, Mortier Geert, Janssens Sandra, Vandeweyer Geert, Kooy R Frank

Abstract excerpt

Intellectual disability (ID) affects approximately 1-2% of the general population and is characterized by impaired cognitive abilities. ID is both clinically as well as genetically heterogeneous, up to 2000 genes are estimated to be involved in the emergence of the disease with various clinical presentations. For many genes, only a few patients have been reported and causality of some genes has been questioned...

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Identifiers

PMID: 27993705
DOI: 10.1016/j.gene.2016.12.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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