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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Главные авторы:	Huimin Li, Zhan Qi, Limin Xie, Chanjuan Hao, Wei Li
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Wiley 2024-02-01
Серии:	Molecular Genetics & Genomic Medicine
Предметы:	compound heterozygous variant intellectual developmental disability MBOAT7 pathogenicity whole exome sequencing
Online-ссылка:	https://doi.org/10.1002/mgg3.2391
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