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...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: Qi Yang, Qiang Zhang, Xunzhao Zhou, Juntan Feng, Shujie Zhang, Li Lin, Shang Yi, Zailong Qin, Jingsi Luo
स्वरूप: लेख
भाषा:English
प्रकाशित: Frontiers Media S.A. 2024-12-01
श्रृंखला:Frontiers in Genetics
विषय:
ऑनलाइन पहुंच:https://www.frontiersin.org/articles/10.3389/fgene.2024.1503048/full