A Novel Splice-Site Deletion in the <i>POU1F1</i> Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees

Pathogenic variants within the gene encoding the pituitary-specific transcription factor, POU class 1 homeobox 1 (<i>POU1F1</i>), are associated with combined pituitary hormone deficiency (CPHD), including growth hormone, prolactin, and thyrotropin stimulating hormone deficiencies. The a...

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Главные авторы: Samar S. Hassan, Mohamed Abdullah, Katarina Trebusak Podkrajsek, Salwa Musa, Areej Ibrahim, Omer Babiker, Jernej Kovac, Tadej Battelino, Magdalena Avbelj Stefanija
Формат: Artigo
Язык:Inglês
Опубликовано: MDPI AG 2022-04-01
Серии:Genes
Предметы:
combined pituitary hormone deficiency
hypopituitarism
<i>POU1F1</i> gene
Dyke–Davidoff–Masson syndrome
meningitis
Online-ссылка:https://www.mdpi.com/2073-4425/13/4/657
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