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
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
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