English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Multiple endocrine neoplasia type 2 (MEN 2) comprises a heterogeneous group of neoplasic disorders that most commonly have a single missense substitution of the RET protooncogene (RET) involving exons 10 and 11. It was previously reported a MEN 2A kindred in which the father presented with a rare phenotype consisting of bilateral ACTH-producing pheochromocytoma and medullary thyroid carcinoma. We recently performed mutational analysis of the father and his 4 children using a denaturing gradient gel electrophoresis approach and PCR-amplified genomic DNA, followed by direct sequencing or restriction fragment length polymorphism testing. All 4 children showed a RET sequence variation. The common exon 11 Cys(634)Arg RET mutation was present in 2 of the 4 children who had undergone thyroidectomy for C cell disease. The remaining 2 children, who did not harbor the Cys(634)Arg mutation and are negative for C cell and adrenal disease, carry a previously unreported Val(648)Ile missense change in RET exon 11. This novel substitution was not found in the unaffected mother or in 200 control alleles. Both RET variants were present in the father affected with MEN 2A and the unusual ACTH-producing pheochromocytoma. We speculate that the double RET mutation may have modified and contributed to the rare MEN 2A phenotype in the father.

the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism

A NovelVal648IleSubstitution inRETProtooncogene Observed in aCys634ArgMultiple Endocrine Neoplasia Type 2A Kindred Presenting with an Adrenocorticotropin-Producing Pheochromocytoma