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Article

Global developmental delay and intellectual disability associated with a de novo TOP2B mutation.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2017

Lam Ching-Wan, Yeung Wai-Lan, Law Chun-Yiu

Abstract excerpt

BACKGROUND: More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identification of new ASD genes can further explore the molecular basis of ASD. METHODS: We report a 15yo girl with developmental delay, intellectual disability, hypotonia,...

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Identifiers

PMID: 28343847
DOI: 10.1016/j.cca.2017.03.022

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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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