Relacionar Columnas Patho: Genetic DiseaseVersión en línea Match the disease name with its description por Rebecca Edmiston 1 Familial adenomatous polyposis 2 Tay Sachs disease 3 Ehlers-Danlos syndrom 4 Wilson's disease 5 Huntington's Disease 6 Neurofibromatosis 7 Angelman Syndrom 8 Marfan syndrome 9 Cystic Fibrosis 10 G6PD deficiency Autosomal recessive disease affecting lungs and pancreas. Autosomal dominant, fibrillin-1 gene; tall, lanky structure, heart murmur APC gene disrupted, increased risk of colon cancer Loss of specific genes on chromosome 15, maternal chromosome most affected, developmental delays Mutation on chromosome 15, disruption of lysosomal enzyme, cognitive impairment, ganglioside accumulation Autosomal dominant, adult-onset, degeneration of neuron, movement disfunction Metabolic enzyme, disruption of gene results in RBC hemolysis Mutation of NF1 gene, decreased neurofibromin production, tumors, cafe-au-lait spots Disorder of copper metabolism Disruption of collagen gene, joint hypermobility, skin hyperelasticity
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