Clinical utility gene card for: multiple endocrine neoplasia type 2

Eur J Hum Genet. 2012 Jan;20(1). doi: 10.1038/ejhg.2011.142. Epub 2011 Aug 24.

Authors

Friedhelm Raue¹, Susanne Rondot, Egbert Schulze, Sylwia Szpak-Ulczok, Barbara Jarzab, Karin Frank-Raue

Affiliation

¹ Endocrine Practice and Molecular Laboratory, Heidelberg, Germany.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Carcinoma, Medullary / congenital
Diagnosis, Differential
Genetic Testing / methods*
Genotype
Humans
Multiple Endocrine Neoplasia Type 2a / diagnosis*
Multiple Endocrine Neoplasia Type 2a / genetics
Multiple Endocrine Neoplasia Type 2b / diagnosis*
Multiple Endocrine Neoplasia Type 2b / genetics
Neoplastic Syndromes, Hereditary / diagnosis
Neoplastic Syndromes, Hereditary / genetics
Point Mutation
Prenatal Diagnosis / methods
Sensitivity and Specificity
Thyroid Neoplasms / diagnosis
Thyroid Neoplasms / genetics

Supplementary concepts

Familial medullary thyroid carcinoma

Associated data

OMIM/155240
OMIM/162300
OMIM/171400