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Article

Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum.

PloS one - 1 Jan 2012

Macher Hada C, Martinez-Broca Maria A, Rubio-Calvo Amalia, Leon-Garcia Cristina, Conde-Sanchez Manuel, Costa Alzenira, Navarro Elena, Guerrero Juan M

Abstract excerpt

The multiple endocrine neoplasia type 2A (MEN2A) is a monogenic disorder characterized by an autosomal dominant pattern of inheritance which is characterized by high risk of medullary thyroid carcinoma in all mutation carriers. Although this disorder is classified as a rare disease, the patients affected have a low life quality and a very expensive and continuous treatment. At present, MEN2A is diagnosed by gene...

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PMID: 23236420
DOI: 10.1371/journal.pone.0051024
PMCID: PMC3517603

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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