CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient

• Authors: Jack Tellerday; Jennifer Black; Donald C Schuessler; Nienke P Dosa; Robert Roger Lebel; Wendy Alcaraz
• Collaborators: Community Health Center; SUNY Upstate Medical University, Syracuse, NY
• Journal: American journal of medical genetics. Part A
• Date: 2024 - May
• Topics: Rare Disease Variant Assess. & Interpretation