Article
Relationship of familial prominent corneal nerves and lesions of the tongue resembling neuromas to multiple endocrine neoplasia type 2B.
American journal of ophthalmology - 1 Oct 1995
Dennehy P J, Feldman G L, Kambouris M, O'Malley E R, Sanders C Y, Jackson C E
Abstract excerpt
PURPOSE: We studied a two-generation family with an inherited syndrome of prominent corneal nerves and lesions of the tongue resembling neuromas without the characteristic neoplasms of the multiple endocrine neoplasia type 2B syndrome. Several different point mutations in the RET proto-oncogene o...
Topics
- Adult
- Base Sequence
- Calcitonin
- Child
- Chromosomes, Human, Pair 10
- Cornea
- Corneal Diseases
- DNA
- DNA Primers
- Drosophila Proteins
- Female
- Humans
- Male
- Molecular Sequence Data
- Multiple Endocrine Neoplasia Type 2b
- Neuroma
- Phenotype
- Point Mutation