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Novel TSHB variant (c.217A>C) causing severe central hypothyroidism and pituitary hyperplasia

SUMMARY: Biallelic pathological variants in the thyroid stimulating hormone (TSH) subunit β gene (TSHB) result in isolated TSH deficiency and secondary hypothyroidism, a rare form of central congenital hypothyroidism (CCH), with an estimated incidence of 1 in 65 000 births. It is characterised by lo...

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Detalles Bibliográficos
Autores principales:	Kaplan, Adam I, Luxford, Catherine, Clifton-Bligh, Roderick J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2022
Materias:	Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422232/ https://www.ncbi.nlm.nih.gov/pubmed/36001021 http://dx.doi.org/10.1530/EDM-22-0230

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