Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease [3]

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

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)1216-1221
Number of pages6
JournalAmerican Journal of Human Genetics
Volume64
Issue number4
DOIs
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Genetics

Cite this

Auricchio, A., Griseri, P., Carpentieri, M. L., Betsos, N., Staiano, A., Tozzi, A., Priolo, M., Thompson, H., Bocciardi, R., Romeo, G., Ballabio, A., & Ceccherini, I. (1999). Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease [3]. American Journal of Human Genetics, 64(4), 1216-1221. https://doi.org/10.1086/302329