WebJan 25, 2024 · Mutation of RPS6KA3 can induce Coffin–Lowry syndrome, an X-linked syndrome. The case here reported manifests its signature characteristic of short stature, facial dysmorphism, development retardation, hearing defect. The mutation of RPS6KA3 we detected by NGS analysis is c.2185 C > T. WebOverview Coffin-Lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person; however, males are typically more severely affected than females.
Human Gene RPS6KA3 (uc011mjl.2)
WebJul 9, 2010 · The Coffin-Lowry syndrome is an X-linked genetic disease, characterized by multiple skeletal deformities, short stature, and developmental delay, neurological disorder, cardiac disorders, renal... WebJul 6, 2024 · Disease Overview Coffin-Siris syndrome (CSS) is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by abnormalities … honda hrv door sill protectors
Coffin–Lowry syndrome European Journal of Human Genetics
WebCoffin-Lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person; however, males are … WebA rare disease is defined as a condition that affects fewer than 1 in 200,000 patients in the United States or 1 in 2000 in Europe. ... Specialists who have done research into Coffin-Lowry syndrome. These specialists have recieved grants, written articles, run clinical trials, or taken part in organizations relating to Coffin-Lowry syndrome ... honda hrv ex 2018 review