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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Principais autores:	Huimin Li, Zhan Qi, Limin Xie, Chanjuan Hao, Wei Li
Formato:	Artigo
Idioma:	Inglês
Publicado:	Wiley 2024-02-01
Series:	Molecular Genetics & Genomic Medicine
Assuntos:	compound heterozygous variant intellectual developmental disability MBOAT7 pathogenicity whole exome sequencing
Acceso en liña:	https://doi.org/10.1002/mgg3.2391
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