Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

nork Aagaard, Katrine S., Brusgaard, Klaus, Miceikaite, Ieva, Larsen, Martin J., Kjeldsen, Anette D., Lester, Emilie B., Ousager, Lilian B., Tørring, Pernille M.
Argitaratua izan da Mol Genet Genomic Med (2020)