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A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
Mederer T, Schmitteckert S, Volz J, Martínez C, Röth R, Thumberger T, Eckstein V, Scheuerer J, Thöni C, Lasitschka F, Carstensen L, Günther P, Holland-Cunz S, Hofstra R, Brosens E, Rosenfeld JA, Schaaf CP, Schriemer D, Ceccherini I, Rusmini M, Tilghman J, Luzón-Toro B, Torroglosa A, Borrego S, Sze-Man Tang C, Garcia-Barceló M, Tam P, Paramasivam N, Bewerunge-Hudler M, De La Torre C, Gretz N, Rappold GA, Romero P, Niesler B. Mederer T, et al. Among authors: sze man tang c. PLoS Genet. 2020 Nov 5;16(11):e1009106. doi: 10.1371/journal.pgen.1009106. eCollection 2020 Nov. PLoS Genet. 2020. PMID: 33151932 Free PMC article.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.
Luzón-Toro B, Gui H, Ruiz-Ferrer M, Sze-Man Tang C, Fernández RM, Sham PC, Torroglosa A, Kwong-Hang Tam P, Espino-Paisán L, Cherny SS, Bleda M, Enguix-Riego Mdel V, Dopazo J, Antiñolo G, García-Barceló MM, Borrego S. Luzón-Toro B, et al. Among authors: sze man tang c. Sci Rep. 2015 Nov 12;5:16473. doi: 10.1038/srep16473. Sci Rep. 2015. PMID: 26559152 Free PMC article.