Mnemonic: FABRY CX 1. Febrile episodes, Foam cells 2. Angiokeratomas, Alpha galactosidase A deficiency 3. Burning pains in hands and feet 4. Renal failure 5.…
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Genetics
Patau Syndrome : Mnemonic
Chromosomal abnormality Count the letters in “Patau Syndrome”. There are 13 letters. Patau syndrome is Trisomy 13. Clinical features Mnemonic: PATAU
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Osteogenesis Imperfecta : Mnemonic
Synonym: Brittle Bone Disease Incidence: 1 in 20,000 Gene defect: Col1A1 (17q) and Col1A2 (7q) Mnemonic: Remember “one” for “bone”. Collagen one is the main…
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