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
The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.
Li H et al.
Molecular Genetics & Genomic Medicine, 2024
MBOAT7 in liver and extrahepatic diseases.
Caddeo A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2023
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
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
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Johansen A et al.
American Journal of Human Genetics, 2016
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