KLK4

Green KLK4 in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• Eligibility statement prior genetic testing

Phenotypes

• Amelogenesis imperfecta, type IIA1, 204700
• Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700