Bidirectional causal link between inflammatory bowel disease and celiac disease: A two-sample mendelian randomization analysis.

Observational research has shown a correlation between inflammatory bowel disease (IBD) [comprising ulcerative colitis (UC) and Crohn's disease (CD)] and celiac disease. However, the relationship between these two diseases remains uncertain. We utilized two-sample Mendelian randomization (MR) to estimate the bidirectional causal relationships between IBD and celiac disease.

Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing.

Background: Syndactyly (SD) refers to a deformity caused by the fusion and limb differentiation disorder of soft tissues and/or skeletons to varying extents between adjacent fingers (toes). The main features of this disease are phenotypic heterogeneity and genetic heterogeneity. In this study, we examined four generations of a Chinese Mongolian with different phenotypes of syndactylia and analysed and identified the pathogenic genetic variants of SD by exon sequencing.

A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.

Background: To investigate the clinical features and the underlying causal gene of a family with hereditary late-onset deafness in Inner Mongolia of China, and to provide evidence for the early genetic screening and diagnosis of this disease.

Methods: Family data were collected to draw a pedigree. Audiological testing and physical examination of the family members were conducted following questionnaire.