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