The second most frequent craniomaxillofacial congenital deformity is hemifacial microsomia
(HFM). Patients often accompany short mandible, ear dysplasia, facial nerve, and soft tissue …

The SF3B4 gene encodes a highly conserved protein that plays a critical role in mRNA
splicing. Mutations in this gene are known to cause Nager syndrome, a rare craniofacial …

Congenital middle ear malformations are a common hearing defect in newborns, primarily
characterised by abnormal middle ear structures, particularly underdeveloped or malformed …

Nager syndrome (NS) is a rare acrofacial dysostosis caused by heterozygous loss-of-
function variants in the splicing factor 3B subunit 4 (SF3B4). The main clinical features of …

Objective Genetic variants in EFTUD2 were proven to influence variable phenotypic
expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial …

Abstract Treacher Collins syndrome-3 (TCS-3) is a rare congenital craniofacial disorder
attributed to variants in the RNA pol I subunit C (POLR1C). The pathogenesis of TCS-3 …

Galectins constitute a class of lectins that specifically interact with β-galactoside sugars in
glycoconjugates and are implicated in diverse cellular processes, including transport …

Abstract Nager syndrome (NS, OMIM 154400) is a rare disease characterized by
craniofacial and limb malformations due to variants in the gene encoding splicing factor 3B …

Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related deaths
worldwide. Major treatments include liver transplantation, resection, and chemotherapy, but …

Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder with variable
penetrance and high genetic and phenotypic heterogeneity. It is caused by pathogenic …