Associated Papers
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
De la Rosa SO et al.
Epilepsia, 2025
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
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
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
Farnè M et al.
American Journal of Medical Genetics. Part A, 2020
Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families.
Sun L et al.
Frontiers in Pediatrics, 2020
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