Introduction to Merkel Cell Carcinoma Merkel cell carcinoma (MCC), also known as Toker tumor, is […]
Understanding Meretoja Syndrome: A Comprehensive Overview
Introduction Meretoja syndrome, also known as hereditary gelsolin amyloidosis, is a rare genetic condition with […]
Understanding Samson-Gardner Syndrome
Introduction to Samson–Gardner Syndrome Samson-Gardner Syndrome‚ a rare genetic disorder‚ presents unique challenges with various […]
Santos-Mateus-Leal Syndrome: A Comprehensive Guide
Introduction The Santos-Mateus-Leal Syndrome, also known as Hirschsprung’s disease-deafness-polydactyly syndrome, is a rare autosomal recessive […]
Albinism-Immunodeficiency Syndrome: Understanding the Link
Albinism-Immunodeficiency Syndrome Albinism⁚ Causes and Symptoms Albinism is primarily caused by genetic mutations affecting melanin […]
Understanding Say-Barber-Hobbs Syndrome: Clinical Features, Genetic Basis, and Management Strategies
Introduction Say-Barber-Hobbs Syndrome is a rare genetic disorder characterized by distinct physical traits affecting various […]
Understanding Sarcoidosis: Symptoms, Diagnosis, and Treatment
Introduction to Sarcoidosis Sarcoidosis is a multisystem disorder that can affect practically any organ of […]
Understanding Congenital Dyserythropoietic Anemia: Causes, Symptoms, Diagnosis, and Treatment
Overview of Congenital Dyserythropoietic Anemia Causes of Congenital Dyserythropoietic Anemia discussed in this section shed […]
Understanding Granulocytic Sarcoma: A Rare Extramedullary Tumor Associated with Acute Myeloid Leukemia
Introduction to Sarcoma, Granulocytic Granulocytic Sarcoma, a rare extramedullary tumor composed of malignant granulocytic precursor […]
Understanding Atelosteogenesis Type I
Atelosteogenesis Type I is caused by mutations in the SLC26A2 gene, leading to severe bone […]