Tag: X-linked
RS, X-Linked
RS, X-Linked: Definition and Description of RS, X-Linked: RS, X-Linked, commonly known as Rieger syndrome, is a genetic condition characterized by abnormalities in the development of the eyes, teeth, and other organs. This disorder is associated with mutations on the X chromosome, leading to a spectrum of developmental anomalies. Individuals with Rieger syndrome may display…
Bulbospinal Muscular Atrophy, X-linked
Bulbospinal Muscular Atrophy, X-linked Definition and Description of Bulbospinal Muscular Atrophy, X-linked Bulbospinal Muscular Atrophy, X-linked (BSMA) is a genetic disorder characterized by the degeneration of motor neurons in the brainstem and spinal cord, leading to muscle weakness and atrophy. This condition is caused by mutations in the gene coding for the androgen receptor (AR)…