Related Experiment Video
Updated: May 8, 2026

A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
Published on: April 7, 2023
[Coffin-Lowry syndrome: Case report in Mexico]
Ana Karen Pérez-Peña1, Daniela Juárez-Melchor2, Yazmin Hernández-Castañeda2
1Instituto Mexicano del Seguro Social, Hospital General de Zona No. 20 "La Margarita", Servicio de Patología Clínica. Puebla, Puebla, México.
Coffin-Lowry syndrome (CLS) is a rare genetic disorder. This case study details a patient with CLS, highlighting a new RPS6KA3 gene variant and expanding the understanding of its clinical features.
Area of Science:
- Genetics
- Clinical Medicine
- Rare Diseases
Background:
- Coffin-Lowry syndrome (CLS) is an X-linked dominant disorder.
- It is caused by variants in the RPS6KA3 gene.
- CLS presents with diverse phenotypes including facial dysmorphia and developmental impairment.
Related Concept Videos
Aneurysm II: Clinical Manifestations and Diagnostic Studies
Cushing Syndrome I: Introduction
Cushing Syndrome II: Pathophysiology
Coronary Artery Disease III: Clinical Manifestations
Graves Disease II: Pathophysiology
Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
