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Article

UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate.

European journal of medical genetics - 1 Feb 2023

Kong Ying, Ye Chaoqun, Shi Leyang, Dai Qingmei, Wang Ying, Hu Jun, Wu Xueyan, Shi Meiyu, Hu Xiaofeng, Huang Huizhi

Abstract excerpt

Unexplained diarrhea and cholestasis are common clinical phenotypes in newborns, indicating there is only a little common genetic basis for these conditions. However, it has been reported that defects in the UNC45A gene can lead to osteo-oto-hepato-enteric syndrome. However, to date, only 10 patients with this syndrome have been reported in 2 studies; therefore, there is still a lack of analysis regarding the...

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Branchio-Oto-Renal Syndrome
Cholestasis
Diarrhea
East Asian People
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intracellular Signaling Peptides and Proteins

Molecular Chaperones

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PMID: 36587802
DOI: 10.1016/j.ejmg.2022.104693

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate.PMID 36587802Read ↗

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