Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein

BACKGROUND: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by isolated glucocorticoid deficiency. Mutations in the ACTH receptor/melanocortin 2 receptor (MC2R), the MC2R accessory protein (MRAP) or the STAR protein (STAR) cause FGD types 1, 2 and 3, res...

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Detalles Bibliográficos
Autores principales: Jain, V, Metherell, L A, David, A, Sharma, R, Sharma, P K, Clark, A J L, Chan, L F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioScientifica 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214758/
https://www.ncbi.nlm.nih.gov/pubmed/21951701
http://dx.doi.org/10.1530/EJE-11-0581

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