Relacionar Columnas Patho: Genetic DiseaseVersión en línea Match the disease name with its description por Rebecca Edmiston 1 Huntington's Disease 2 Cystic Fibrosis 3 Ehlers-Danlos syndrom 4 Familial adenomatous polyposis 5 Neurofibromatosis 6 Wilson's disease 7 Marfan syndrome 8 Angelman Syndrom 9 Tay Sachs disease 10 G6PD deficiency Mutation of NF1 gene, decreased neurofibromin production, tumors, cafe-au-lait spots APC gene disrupted, increased risk of colon cancer Autosomal dominant, adult-onset, degeneration of neuron, movement disfunction 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. 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, fibrillin-1 gene; tall, lanky structure, heart murmur
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