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Article

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Clinical genetics - 1 Jan 2017

Philips A K, Pinelli M, de Bie C I, Mustonen A, Määttä T, Arts H H, Wu K, Roepman R, Moilanen J S, Raza S, Varilo T, Scala G, Cocozza S, Gilissen C, van Gassen K L I, Järvelä I

Abstract excerpt

Intellectual disability (ID) is a major health problem in our society. Genetic causes of ID remain unknown because of its vast heterogeneity. Here we report two Finnish families and one Dutch family with affected individuals presenting with mild to moderate ID, neuropsychiatric symptoms and delayed speech development. By utilizing whole exome sequencing (WES), we identified a founder missense variant c.983T>C...

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PMID: 27311568
DOI: 10.1111/cge.12821

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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