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Article

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Clinical genetics - 1 May 2017

Cohen J S, Srivastava S, Farwell Hagman K D, Shinde D N, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan K G, Poretti A, Wilson A L, Chung W K, Fatemi A

Abstract excerpt

Identification of rare genetic variants in patients with intellectual disability (ID) has been greatly accelerated by advances in next generation sequencing technologies. However, due to small numbers of patients, the complete phenotypic spectrum associated with pathogenic variants in single genes is still emerging. Among these genes is ZBTB18 (ZNF238), which is deleted in patients with 1q43q44 microdeletions who...

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Source

Identifiers

PMID: 27598823
DOI: 10.1111/cge.12861

Genes

ZBTB18

Provenance

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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Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.PMID 27598823Read ↗

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