Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Keyphrases

• Hypotrichosis 100%
• Lymphedema 100%
• Telangiectasia 100%
• SOX18 100%
• Clinical Spectrum 100%
• Renal Defects 100%
• Pathogenic Variants 33%
• Clinical Features 16%
• Exome Sequencing 16%
• Functional Limitations 16%
• Older Female Patient 16%
• Poor Wound Healing 16%
• Wound Management 16%
• Musculoskeletal Abnormalities 16%
• Chronic Skin Ulcers 16%
• Phenotypic Characteristics 16%
• Ultra-rare Disorders 16%

Medicine and Dentistry

• Hypotrichosis Lymphedema Telangiectasia 100%
• Wound Healing 20%
• Lymphedema 20%
• Clinical Feature 20%
• Orphan Disorder 20%
• Hypotrichosis 20%
• Exome Sequencing 20%
• Functional Limitation 20%
• Wound Management 20%
• Musculoskeletal System Malformation 20%
• Skin Ulcer 20%
• Telangiectasia 20%