Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

by Ferreira Susana, Matoso Eunice, Venâncio Margarida, Saraiva Jorge, Melo Joana B, Carreira Isabel
Published 2012-05-01

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

by Morimoto Marie, Yu Zhongxin, Stenzel Peter, Clewing J, Najafian Behzad, Mayfield Christy, Hendson Glenda, Weinkauf Justin G, Gormley Andrew K, Parham David M, Ponniah Umakumaran, André Jean-Luc, Asakura Yumi, Basiratnia Mitra, Bogdanović Radovan, Bokenkamp Arend, Bonneau Dominique, Buck Anna, Charrow Joel, Cochat Pierre, Cordeiro Isabel, Deschenes Georges, Fenkçi M, Frange Pierre, Fründ Stefan, Fryssira Helen, Guillen-Navarro Encarna, Keller Kory, Kirmani Salman, Kobelka Christine, Lamfers Petra, Levtchenko Elena, Lewis David B, Massella Laura, McLeod D, Milford David V, Nobili François, Saraiva Jorge M, Semerci C, Shoemaker Lawrence, Stajić Nataša, Stein Anja, Taha Doris, Wand Dorothea, Zonana Jonathan, Lücke Thomas, Boerkoel Cornelius F
Published 2012-09-01