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Article

A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish.

Human genomics - 19 May 2023

Shin Unbeom, Choi Yeonsong, Ko Hwa Soo, Myung Kyungjae, Lee Semin, Cheon Chong Kun, Lee Yoonsung

Abstract excerpt

BACKGROUND: Ubiquitin-related rare diseases are generally characterized by developmental delays and mental retardation, but the exact incidence or prevalence is not yet fully understood. The clinical application of next-generation sequencing for pediatric seizures and developmental delay of unknown causes has become common in studies aimed at identification of a causal gene in patients with ubiquitin-related rare...

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Identifiers

PMID: 37208785
DOI: 10.1186/s40246-023-00491-7
PMCID: PMC10199504

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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