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A Family with Complete Resistance to Thyrotropin-Releasing Hormone

Year: 2009

Type: article

Abstract: To the Editor: We report on a family with recessive resistance to the action of thyrotropin-releasing hormone (TRH) due to a nonsense homozygous mutation in the TRH receptor (TRHR) gene (p.R17X). W...

Source: New England Journal of Medicine

DOI: 10.1056/nejmc0808557

Authors: Marco Bonomi, Marta Busnelli, Paolo Beck-Peccoz, Daniela Costanzo, Francesco Antonica, Claudia Dolci, Alba Pilotta, Fabio Buzi, Luca Persani

Institutions: IRCCS Istituto Auxologico Italiano, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Language: English

Topic: Thyroid Disorders and Treatments

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2044709865

FWCI: 3.757

Cites: 5

Cited by: 122

Related to: 10