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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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Jain, V, Metherell, L A, David, A, Sharma, R, Sharma, P K, Clark, A J L, Chan, L F
Format: Artigo
Langue:Inglês
Publié: BioScientifica 2011
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214758/
https://ncbi.nlm.nih.gov/pubmed/21951701
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-11-0581
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