Article
Prenatal and postnatal manifestations of WBP11-related disorder in Chinese patients: expanding the phenotypic and mutational spectrum.
Human genomics - 13 Apr 2026
Ma Tingbin, Liu Jinyu, Wang Yuqi, Zhu Haibo, Qin Yihong, Liu Ruizhi, Yuan Hongtao, Ye Baoying, Hua Renyi, Li Shuyuan, Xi Hui, Wang Jian, Li Niu
Abstract excerpt
BACKGROUND: Heterozygous pathogenic variants in WBP11, a spliceosome-associated gene, have recently been linked to VACTERL syndrome, yet prenatal manifestations and genotype–phenotype correlations remain poorly characterized. METHODS: Genomic DNA was extracted from fetal tissues, amniotic fluid cells, or peripheral blood samples for trio-based whole-exome sequencing (WES) to identify potential genetic etiologies....
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