A Novel Splice-Site Deletion in the POU1F1 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 (POU1F1), are associated with combined pituitary hormone deficiency (CPHD), including growth hormone, prolactin, and thyrotropin stimulating hormone deficiencies. The aim of the study was...

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Detalles Bibliográficos
Autores principales: Hassan, Samar S., Abdullah, Mohamed, Trebusak Podkrajsek, Katarina, Musa, Salwa, Ibrahim, Areej, Babiker, Omer, Kovac, Jernej, Battelino, Tadej, Avbelj Stefanija, Magdalena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032872/
https://www.ncbi.nlm.nih.gov/pubmed/35456463
http://dx.doi.org/10.3390/genes13040657

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032872/
https://www.ncbi.nlm.nih.gov/pubmed/35456463
http://dx.doi.org/10.3390/genes13040657

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