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Article

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.

Genes - 20 Aug 2020

Al-Hamed Mohamed H, Alsahan Nada, Tulbah Maha, Kurdi Wesam, Ali Wafa'a, Sayer John A, Imtiaz Faiqa

Abstract excerpt

BACKGROUND: Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF, MIM 618316) is a newly described disorder. It is characterized by global developmental delay, intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Biallelic pathogenic variants of TMEM94 are associated with IDDCDF. METHODS AND RESULTS: In a prenatal setting,...

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Identifiers

PMID: 32825426
DOI: 10.3390/genes11090967
PMCID: PMC7565137

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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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