Introduction to Nephrocalcinosis Nephrocalcinosis is a disorder characterized by the deposition of excess calcium in […]
Understanding Chromosome 2 Deletion Syndrome
Chromosome 2 Deletion Syndrome is a rare genetic disorder caused by the deletion of a […]
Understanding Epidermolysis Bullosa Dystrophica‚ Bart Type
Understanding Epidermolysis Bullosa Dystrophica‚ Bart Type Epidermolysis Bullosa Dystrophica (EBD) is a genetic condition affecting […]
Galloway-Mowat Syndrome: A Comprehensive Overview
Disease Overview Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical […]
Understanding Cataracts and Mental Retardation
Cataracts can develop due to aging, injury, certain medications, long-term exposure to UV rays, or […]
Overview of Nephropathy Deafness Hyperparathyroidism Syndrome
Nephropathy Deafness Hyperparathyroidism Syndrome is a rare genetic disorder affecting the kidneys, ears, and parathyroid […]
Understanding Epidermal Nevus Vitamin D Resistant Rickets: Genetic Basis, Clinical Manifestations, and Diagnosis
Disease ─ Epidermal Nevus Vitamin D Resistant Rickets Epidermal Nevus Vitamin D Resistant Rickets is […]
Understanding Epidermodysplasia Verruciformis: Genetic Basis, Immune System Role, and HPV Infections
Understanding Epidermodysplasia Verruciformis Epidermodysplasia Verruciformis is a rare genetic disorder characterized by susceptibility to HPV […]
Overview of Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome⁚ A rare genetic multiple congenital anomalies syndrome with unique characteristics. The […]
Understanding Nephronophthisis Familial Adult Spastic Quadriparesis: Causes, Symptoms, and Management
Introduction Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that can lead to kidney […]