Letters to the Editor
Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease

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Hirschsprung disease
RET proto-oncogene
Endothelin receptor B (EDNRB)
Silent mutations
Polygenic inheritance
Expression studies

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Present affiliation: Institute for Human Gene Therapy, Wistar Institute, Philadelphia.