Congenital muscular dystrophies (CMD) and glycosylation disorders are a group of genetic conditions that affect muscle function and development due to abnormalities in glycosylation, the process ...
Disorders of Sex Development (DSD) encompass a range of congenital conditions where the development of chromosomal, gonadal, or anatomical sex is atypical. These conditions can lead to significant ...
The wide variety of congenital anomalies often accompanying constitutional aplastic anemia has led to its recognition as a distinctive syndrome. Congenital malformations have been the outstanding ...