C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.

doi:10.1210/jcem.81.7.8675603

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Article

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.

The Journal of clinical endocrinology and metabolism - 1 Jul 1996

Caron P, Attié T, David D, Amiel J, Brousset F, Roger P, Munnich A, Lyonnet S

Abstract excerpt

The cosegregation of multiple endocrine neoplasia (MEN) type 2A with Hirschsprung's disease (HSCR), two diseases associated with mutation of the RET proto-oncogene, is infrequent. A 30-yr-old man was referred for screening of MEN 2A. Surgery for HSCR was performed at 4 yr of age. Basal and pentag...

Topics

Adult
Calcitonin
Carcinoma, Medullary
Drosophila Proteins
Exons
Female
Hirschsprung Disease
Humans
Male
Multiple Endocrine Neoplasia Type 2a
Mutation
Pedigree
Pentagastrin
Proto-Oncogene Mas
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases
Thyroid Neoplasms

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PMID: 8675603
DOI: 10.1210/jcem.81.7.8675603

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8675603-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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