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