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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Tise, Christina G., Matalon, Dena R., Manning, Melanie A., Byers, Heather M., Grover, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160898/
https://www.ncbi.nlm.nih.gov/pubmed/35638718
http://dx.doi.org/10.1177/23247096221101844

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160898/
https://www.ncbi.nlm.nih.gov/pubmed/35638718
http://dx.doi.org/10.1177/23247096221101844

Ejemplares similares