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Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.

Clinical genetics - 1 Apr 2025

Almontashiri Naif A M, Mushiba Aziza, Alruqi Haya, Alharby Essa, Hashmi Jamil Amjad

Abstract excerpt

Biallelic loss of function variant in SEC31A is associated with lethal neurodevelopmental disorder, dysmorphic features, and skeletal defects.

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Identifiers

PMID: 39725565
DOI: 10.1111/cge.14680

Genes

SEC31A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.PMID 39725565Read ↗

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Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.Semantic proximity Read ↗

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