Associated Papers
A Deleterious Variant in MBOAT7 Causes Intellectual Disability in an Iranian Family: An Example of Reassignment of Variants of Uncertain Significance.
Saba N et al.
Biochemical Genetics, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
De la Rosa SO et al.
Epilepsia, 2025
40116760 (PubMed )
Supplement: EPI-66-2379-s001.xlsx › Data
Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.
Nazmina G et al.
Clinical Genetics, 2024
The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.
Li H et al.
Molecular Genetics & Genomic Medicine, 2024
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.
Asif M et al.
Genes, 2022
36672789 (PubMed )
Supplement: genes-14-00048-s001.zip › genes-2033021-supplementary › Supplementary_files › Supplementary_Table_S1_MBOAT7_1.12.2022.xlsx › Sheet1
Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability.
Heidari E et al.
Genomics, 2020
Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families.
Sun L et al.
Frontiers in Pediatrics, 2020
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
Khan S et al.
Bmc Medical Genetics, 2019
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.
Yalnızoǧlu D et al.
Journal of Inherited Metabolic Disease, 2019
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