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Pathology Mendelian Disorders: Single-Gene Defects 476014f9

Wilson's disease is?

A
AR
B
AD
C
XR
D
XD
High-Yield Explanation
Ans. is 'a' i.e., AR o Wilson's disease is an autosomal recessive disorder.Autosomal recessive disorders1) Metabolic - Cystic fibrosis, Phenyl ketonuria, Galactosemia, Homocystinuria, Lysosomal storage dis, al- antitrypsin deficiency, Wilson disease, Hemochromatosis, Glycogen storage disorders2) Hematological - Sickle cell anemia, Thalassemias3) Endocrine - Congenital adrenal hyperplasia (some variants), Albinism4) Skeletal - EDS (some variants) Alkaptonuria5) Nervous -Friedreich ataxia, Spinal muscular atrophy, Neurogenic muscular atrophies, Ataxia Telegiectasia.

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