[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.

Summary

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.

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