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Article

In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance.

Clinical and translational medicine - 1 Jan 2023

Zhu Wenjiao, Shi Yuanping, Zhang Changrun, Peng Yajie, Wan Yueyue, Xu Yue, Liu Xuemeng, Han Bing, Zhao Shuangxia, Kuang Yanping, Song Huaidong, Qiao Jie

Abstract excerpt

BACKGROUND: SMC5/6 complex plays a vital role in maintaining genome stability, yet the relationship with human diseases has not been described. METHODS: SMC5 variation was identified through whole-exome sequencing (WES) and verified by Sanger sequencing. Immunoprecipitation, cytogenetic analysis, fluorescence activated cell sorting (FACS) and electron microscopy were used to elucidate the cellular consequences of...

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Identifiers

PMID: 36627765
DOI: 10.1002/ctm2.1007
PMCID: PMC9832215

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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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