Molecular mechanism study of novel compound heterozygous EOGT mutations leading to Adams-Oliver syndrome type 4.

Yufei He, Xiangyu Liu, Zongrui Shen, Tingting Xu, Fang Yang, Fu Xiong, Yuanling Xiao

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Article in Global medical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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5 · Who and what money

Authors and funding

7 authors.

Yufei HeDepartment of Medical Genetics/Experimental Education/Administration Center, Guangdong Provincial Key Laboratory of Single-cell and Extracellular Vesicles, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China.

Xiangyu LiuObstetrics and gynecology Center, Zhujiang Hospital of Southern Medical University, Guangzhou 510282, China.

Zongrui ShenDepartment of Medical Genetics/Experimental Education/Administration Center, Guangdong Provincial Key Laboratory of Single-cell and Extracellular Vesicles, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China.

Tingting XuDepartment of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, China.

Fang YangDepartment of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, China.

Fu XiongDepartment of Medical Genetics/Experimental Education/Administration Center, Guangdong Provincial Key Laboratory of Single-cell and Extracellular Vesicles, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China.

Yuanling XiaoDepartment of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Adams-Oliver Syndrome Type 4 (AOS4) is a rare autosomal recessive disorder primarily characterized by aplasia cutis congenita and cranial defects. Pathogenic variants in several genes, including

Indexed as

Aplasia cutis congenitaEOGTNotch signaling pathwayO-linked-N-acetylglucosamine (O-GlcNAc)Rare genetic disorder

Identifiers

PMID41959640

DOI10.1016/j.gmg.2026.100100

PMCPMC13058963

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LicenceCC BY-NC-ND

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.