Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2

Grzegorz M. Burzynski, Ilja M. Nolte, Jan Osinga, Isabella Ceccherini, Bas Twigt, Saskia Maas, Alice Brooks, Joke Verheij, Ivan Plaza Menacho, Charles H C M Buys, Robert M W Hofstra

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Medicine & Life Sciences