Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies

Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies

UBAP2L-deficiency syndrome, also known as neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (NEDLBF, OMIM 620494), is an extremely rare autosomal dominant disorder. This condition is caused by heterozygous variant in the UBAP2L gene (NM_014847.4, MIM...

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Detalles Bibliográficos
Autores principales: Qi Yang, Qiang Zhang, Xunzhao Zhou, Juntan Feng, Shujie Zhang, Li Lin, Shang Yi, Zailong Qin, Jingsi Luo
Formato: Artículo
Lenguaje:English
Publicado: Frontiers Media S.A. 2024-12-01
Colección:Frontiers in Genetics
Materias:
UBAP2L-deficiency syndrome
UBAP2L
intellectual disability
developmental delay
Chinese
Acceso en línea:https://www.frontiersin.org/articles/10.3389/fgene.2024.1503048/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2024.1503048/full

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