Work

Four New Cases of Congenital Secondary Hypothyroidism due to a Splice Site Mutation in the Thyrotropin-β Gene: Phenotypic Variability and Founder Effect

Year: 2004

Type: article

Study design: Case Report

Source: The Journal of Clinical Endocrinology & Metabolism

DOI: 10.1210/jc.2004-0494

Authors: Guntram Borck, A. Kemal Topaloglu, Eckhard Korsch, Ursula Martiné, Gabriele Wildhardt, Neslihan Onenli-Mungan, Bilgin Yuksel, Ulrich Aumann, Gerhard Koch, Guler Ozer, Roland Pfäffle, Neal H. Scherberg, Samuel Refetoff, Joachim Pohlenz

Institutions: Hôpital Necker-Enfants Malades, Inserm, Institut Necker Enfants Malades, University Medical Center of the Johannes Gutenberg University Mainz, Cukurova University, Leipzig University, University of Chicago

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: closed

Funder: National Institute of Diabetes and Digestive and Kidney Diseases

Awards: G1164413914, G1942971473

OpenAlex ID: W2102441981

FWCI: 0.645

Cites: 27

Cited by: 30

Related to: 10