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...
मुख्य लेखकों: | , , , , , , , , |
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स्वरूप: | लेख |
भाषा: | English |
प्रकाशित: |
Frontiers Media S.A.
2024-12-01
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श्रृंखला: | Frontiers in Genetics |
विषय: | |
ऑनलाइन पहुंच: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1503048/full |