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Autor:
Tang, CS, Hui, KJWS, Sham, PC, Tam, PKH, Cherny, SS, Leon, YY, So, MT, Burzynski, G, De Vries, AR, Miao, XP, Sribudiani, Y, Hofstra, RMW, Verheij, JBGM, GarciaBarceló, MM, Osinga, J, Yip, BH
Publikováno v:
HUMAN GENETICS, 127(6), 675-683. SPRINGER
Human Genetics
Human Genetics
Hirschsprung's disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths of the intestine. The RET gene is the major HSCR gene. Reduced penetrance of RET mutations and phenotypic variability suggest the in