Instant Inclusion: In-depth Analysis of Uncertainties Experienced by Parents of Newborns with Severe Combined Immunodeficiency Research Background Severe Combined Immunodeficiency (SCID) is a rare and potentially fatal genetic disorder. Without timely diagnosis and treatment, patients face life-threatening conditions. In recent years, early identif...

Heterozygous THBS2 Pathogenic Variants Cause Ehlers-Danlos Syndrome with Prominent Vascular Features in Humans and Mice Paper Background Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders caused by mutations in collagen and collagen-related genes. These disorders present in various forms and can be classified into 14 different t...

New Discovery: Study on the Association between GJA8 Gene Mutations and Familial Aniridia-Microphthalmia-Cataract Syndrome Research Background Normal eye development is a process that requires the coordinated action of multiple genes and factors. Abnormal eye development can lead to congenital eye malformations such as anophthalmia, microphthalmia,...

This study aims to explore the relationship between copy number variations (CNVs) involving the NR0B1 (DAX1) gene and 46,XY gonadal dysgenesis. 46,XY gonadal dysgenesis (GD) is a disorder of sex development caused by the failure of gonads to fully differentiate into testes. This condition can lead to individuals presenting with female or ambiguous ...

Exploring the Relationship between Face-Specific Activity and Conscious Face Perception Introduction Face perception is a fundamental cognitive process that enables humans to effectively identify faces in the environment, thus facilitating better social interactions. Extensive research has identified a specific region in the ventral visual cortex o...