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8. Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia. Aagaard KS; Brusgaard K; Miceikaite I; Larsen MJ; Kjeldsen AD; Lester EB; Ousager LB; Tørring PM Mol Genet Genomic Med; 2020 Nov; 8(11):e1498. PubMed ID: 33058509 [TBL] [Abstract][Full Text] [Related]
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