A Novel Mutation in the MC2R Gene Causing Familial Glucocorticoid Deficiency Type 1
Author:
Publisher
S. Karger AG
Subject
Developmental Biology,Pediatrics, Perinatology and Child Health
Reference18 articles.
1. Primary Adrenal Insufficiency in Children: Twenty Years Experience at the Sainte-Justine Hospital, Montreal
2. The Cloning of a Family of Genes That Encode the Melanocortin Receptors
3. Familial Glucocorticoid Deficiency: Advances in the Molecular Understanding of ACTH Action
4. Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation
5. Neonatal Hepatitis and Congenital Insensitivity to Adrenocorticotropin (ACTH)
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1. Establishment of human induced pluripotent stem cell line SDQLCHi029-A from one Type 1 familial glucocorticoid deficiency patient carrying compound heterozygote mutations in MC2R gene;Stem Cell Research;2024-04
2. A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report;Frontiers in Endocrinology;2023-02-24
3. Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression;International Journal of Molecular Sciences;2022-07-28
4. Novel Melano-Cortin-2-Receptor Gene Mutation Presenting With Infantile Cholestasis: A Case Report;Clinical Medicine Insights: Case Reports;2022-01
5. A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency;Journal of Pediatric Endocrinology and Metabolism;2021-07-19
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