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USMLE Step 1
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Single-Gene Disorders
USMLE STEP 1
Genetics
Categories
Single-Gene Disorders
Population Genetics and Genetic Testing
Inheritance Patterns
Chromosomal and Epigenetic Disorders
Trinucleotide Repeat Disorders: Huntington (CAG), Fragile X (CGG), Myotonic Dystrophy (CTG), Friedreich Ataxia (GAA), Spinocerebellar Ataxia — Anticipation Phenomenon
Lysosomal Storage Diseases: Tay-Sachs, Gaucher, Niemann-Pick, Fabry, Krabbe, Metachromatic Leukodystrophy, Hurler, Hunter — Enzyme Defects, Substrates, Clinical Features
Autosomal Dominant Disorders: Huntington, Marfan, Familial Hypercholesterolemia, ADPKD, Neurofibromatosis 1 and 2, Tuberous Sclerosis, Von Hippel-Lindau, Hereditary Spherocytosis, Achondroplasia
X-Linked Disorders: Duchenne and Becker Muscular Dystrophy, Hemophilia A and B, G6PD Deficiency, Fabry Disease, Hunter Syndrome, Lesch-Nyhan, Fragile X, Wiskott-Aldrich, Bruton Agammaglobulinemia, CGD
Autosomal Recessive Disorders: Cystic Fibrosis, Sickle Cell Disease, PKU, Tay-Sachs, Gaucher, Niemann-Pick, Wilson Disease, Hemochromatosis, Alpha-1 Antitrypsin Deficiency, Glycogen Storage Diseases
Single-Gene Disorders
Population Genetics and Genetic Testing
Inheritance Patterns
Chromosomal and Epigenetic Disorders
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