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Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease

✍ Scribed by Guido Fitze; Jakob Cramer; Andreas Ziegler; Mandy Schierz; Matthias Schreiber; Eberhard Kuhlisch; Dietmar Roesner; Hans K Schackert


Book ID
117280324
Publisher
The Lancet
Year
2002
Tongue
English
Weight
98 KB
Volume
359
Category
Article
ISSN
0140-6736

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The multiple endocrine neoplasia type 2 (MEN2) syndromes and Hirschsprung's disease (HSCR) are inherited neurocristopathies characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid disease, and gastrointestinal neuromatosis. Mutations in the RET proto-oncogene are the underl