Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

Familial glucocorticoid deficiency type 1 (FGD1) is an autosomal recessive disorder caused by mutations in the melanocortin 2 receptor (MC2R) gene, characterized by a low or undetectable serum cortisol level and a high adrenocorticotropic hormone (ACTH) level. Clinical manifestations include hypogly...

Descripción completa

Detalles Bibliográficos
Autores principales: Abuduxikuer, Kuerbanjiang, Li, Zhong-Die, Xie, Xin-Bao, Li, Yu-Chuan, Zhao, Jing, Wang, Jian-She
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563654/
https://www.ncbi.nlm.nih.gov/pubmed/31244773
http://dx.doi.org/10.3389/fendo.2019.00359

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563654/
https://www.ncbi.nlm.nih.gov/pubmed/31244773
http://dx.doi.org/10.3389/fendo.2019.00359

Ejemplares similares