Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes

Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectrum of 11 causative genes in Turkish patients with CH. This study includ...

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Veröffentlicht in:Archives of Endocrinology and Metabolism 2023-11, Vol.68, p.e220254
Hauptverfasser: Kırkgöz, Tarık, Gürsoy, Semra, Acar, Sezer, Nalbantoğlu, Özlem, Özkaya, Beyhan, Anıl Korkmaz, Hüseyin, Hazan, Filiz, Özkan, Behzat
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Sprache:eng
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