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Article

The first prenatal diagnosis of EMC10-Related neurodevelopmental disorder: Expanding the phenotypic and mutational spectra through a case and literature review.

Taiwanese journal of obstetrics & gynecology - 1 Jul 2026

Wang Ping, Zhang Haixia, Sun Yuanyuan, Huang Lian, Mai Jingqun, Jia Fenglin, Xie Hanbing, Zhang Zhu

Abstract excerpt

OBJECTIVE: To characterize the first prenatal diagnosis of EMC10-related neurodevelopmental disorder (NEDDFAS), delineate its previously unreported prenatal phenotypes, and contextualize the findings through a comprehensive review of published cases. CASE REPORT: We report the first prenatal diagnosis of NEDDFAS in a non-consanguineous Chinese family, identifying novel compound heterozygous truncating variants...

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Identifiers

PMID: 42362276
DOI: 10.1016/j.tjog.2026.03.024

Genes

EMC10

Variants

Provenance

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

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