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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Qi Yang, Qiang Zhang, Xunzhao Zhou, Juntan Feng, Shujie Zhang, Li Lin, Shang Yi, Zailong Qin, Jingsi Luo
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2024-12-01
Schriftenreihe:Frontiers in Genetics
Schlagworte:
UBAP2L-deficiency syndrome
UBAP2L
intellectual disability
developmental delay
Chinese
Online-Zugang:https://www.frontiersin.org/articles/10.3389/fgene.2024.1503048/full
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