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

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

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Bibliographic Details
Published inClinical genetics Vol. 107; no. 4; pp. 477 - 479
Main Authors Almontashiri, Naif A. M., Mushiba, Aziza, Alruqi, Haya, Alharby, Essa, Hashmi, Jamil Amjad
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.04.2025
Subjects
Alleles
dysmorphism
Female
Genetic Predisposition to Disease
Humans
Loss of Function Mutation - genetics
Male
neurodevelopmental disorder
Neurodevelopmental disorders
Neurodevelopmental Disorders - genetics
Neurodevelopmental Disorders - pathology
Phenotype
recessive
SEC31A
skeletal defects
Vesicular Transport Proteins - genetics
dysmorphism
skeletal defects
neurodevelopmental disorder
SEC31A
recessive
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Summary:Biallelic loss of function variant in SEC31A is associated with lethal neurodevelopmental disorder, dysmorphic features, and skeletal defects.Biallelic loss of function variant in SEC31A is associated with lethal neurodevelopmental disorder, dysmorphic features, and skeletal defects.
Bibliography:Funding
This project was funded by The Research, Development and Innovation Authority, Kingdom of Saudi Arabia (Award Number: 12996‐iau‐2023‐TAU‐R‐3‐1‐HW‐).
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ISSN:0009-9163
1399-0004
1399-0004
DOI:10.1111/cge.14680