sábado, 3 de septiembre de 2011

European Journal of Human Genetics - Clinical utility gene card for: multiple endocrine neoplasia type 2

Clinical Utility Gene Card
European Journal of Human Genetics advance online publication 24 August 2011; doi: 10.1038/ejhg.2011.142
Clinical utility gene card for: multiple endocrine neoplasia type 2
Friedhelm Raue1, Susanne Rondot1, Egbert Schulze1, Sylwia Szpak-Ulczok2, Barbara Jarzab2 and Karin Frank-Raue1


1Endocrine Practice and Molecular Laboratory, Heidelberg, Germany
2Maria Sklodowska Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland
Correspondence: Professor Dr F Raue, Endocrine Practice and Molecular Laboratory, Brueckenstrasse 21, Heidelberg 69120, Germany. Tel: +49 062 2143 9090; Fax: +49 062 2143 9099; E-mail: friedhelm.raue@raue-endokrinologie.de

1. DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Multiple endocrine neoplasia 2A (MEN 2A), multiple endocrine neoplasia 2B (MEN 2B), familial medullary thyroid carcinoma (FMTC).
1.2 OMIM# of the disease
MEN 2A: 171400; MEN 2B: 162300; FMTC: 155240.
1.3 Name of the analysed genes or DNA/chromosome segments
RET proto-oncogene/10q11.2.
1.4 OMIM# of the gene(s)
164761.

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European Journal of Human Genetics - Clinical utility gene card for: multiple endocrine neoplasia type 2

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