The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants

The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants

Abstract Background Intellectual disability (ID) is a con neurodevelopmental disorder in children. The genetic etiology of ID is complex, but more subtypes are defined due to the broad application of next‐generation sequencing. Methods Whole‐exome sequencing (WES) and Sanger sequencing was applied i...

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Bibliographic Details
Main Authors: Huimin Li, Zhan Qi, Limin Xie, Chanjuan Hao, Wei Li
Format: Article
Language:English
Published: Wiley 2024-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
compound heterozygous variant
intellectual developmental disability
MBOAT7
pathogenicity
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.2391

Internet

https://doi.org/10.1002/mgg3.2391

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