Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET
Open Access
- 1 November 2001
- journal article
- letter
- Published by BMJ in Journal of Medical Genetics
- Vol. 38 (11) , 784-787
- https://doi.org/10.1136/jmg.38.11.784
Abstract
We have studied a family presenting with MTC and corneal nerve thickening (CNT), but no evidence of MEN 2 related disease outside the thyroid gland (fig 1). The proband (III.1) was found to have prominent corneal nerves on routine ophthalmological examination in his late 30s. No further action was taken and he presented with a palpable thyroid mass at the age of 53.Keywords
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