Associated Papers
Severe adrenal insufficiency in six neonates with normal newborn screening for CAH.
Kurt I et al.
Clinical Endocrinology, 2024
A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate.
Kardas Yildiz A et al.
Molecular Syndromology, 2024
Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene.
Maleknejad S et al.
International Journal of Endocrinology, 2024
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients.
Duan Y et al.
Journal of Medical Genetics, 2023
A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency.
Özbek MN et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F et al.
Journal of the Endocrine Society, 2021
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.
Heshmatzad K et al.
International Journal of Endocrinology, 2020
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.
Abuduxikuer K et al.
Frontiers in Endocrinology, 2019
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
Guran T et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
Lin L et al.
Clinical Endocrinology, 2007
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