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

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

ABSTRACT Objective: 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...

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Bibliographic Details
Main Authors: Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Hüseyin Anıl Korkmaz, Filiz Hazan, Behzat Özkan
Format: Article
Language:English
Published: Brazilian Society of Endocrinology and Metabolism 2023-11-01
Series:Archives of Endocrinology and Metabolism
Subjects:
Pituitary
Hypopituitarism
isolated growth hormone deficiency
combined pituitary hormone deficiency
GLI2
PROP1
LHX4
POU1F1
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972024000100303&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972024000100303&tlng=en

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