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. 1999 Apr;64(4):1216–1221. doi: 10.1086/302329

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

A Auricchio, P Griseri, M L Carpentieri, N Betsos, A Staiano, A Tozzi, M Priolo, H Thompson, R Bocciardi, G Romeo, A Ballabio, I Ceccherini
PMCID: PMC1377847  PMID: 10090908

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