Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome

• Autores principales: Christina G. Tise MD, PhD (Autor), Dena R. Matalon MD (Autor), Melanie A. Manning MD (Autor), Heather M. Byers MD (Autor), Monica Grover MBBS (Autor)
• Formato: Libro
• Publicado: SAGE Publishing, 2022-05-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Pathogenic variants in RPS6KA3 are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and digit anomalies in hemizygous males. Heterozygous fe...