Kindred with prominent corneal nerves associated with a mutation in codon 804 of RET on chromosome 10q11.
Ong
Desiree S
DS
Department of Ophthalmology and Visual Sciences, Vanderbilt University School of Medicine, 2311 Pierce Ave, Nashville, TN 37232-8808, USA. denis.m.oday@vanderbilt.edu
Lakhani
Vipul
V
Oates
John A
JA
O'Day
Denis M
DM
D000368:Aged; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000473:pathology; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D003062:Codon; D003315:Cornea / Q000294:innervation*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009882:Ophthalmic Nerve / Q000473:pathology*; D010375:Pedigree; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
D003062:Codon; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human