Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

Rita M Cabral, Lu Liu, Carol Hogan, Patricia J C Dopping-Hepenstal, Beatriz C Winik, Raúl A Asial, Richard Dobson, Charles A Mein, Patricia A Baselaga, Jemima E Mellerio, Arti Nanda, Maria del Carmen Boente, David P Kelsell, John A McGrath, Andrew P South

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Biochemistry, Genetics and Molecular Biology