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Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein

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Rumie, H. Beauloye, Véronique [UCL] Maes, Marc [UCL] Metherell, L. A. Clark, A. J. L.

Familial glucocorticoid deficiency (FGD) is a rare inherited disorder which may be caused by mutations in the ACTH receptor (melanocortin 2 receptor, MC2R) named FGD type 1 or by mutations in the MC2R accessory protein (MRAP) named FGD type 2. We report the case history of a male patient from birth until adulthood with FGD type 2, confirmed by a mutation of the MRAP gene.

Document type Article de périodique (Journal article) – Case Reports, Journal Article
Access type Accès libre
Publication date 2007
Language Anglais
Journal information "European Journal of Endocrinology" - Vol. 157, no. 4, p. 539-42 (2007)
Peer reviewed yes
Publisher Bio Scientifica Ltd (Bristol)
issn 0804-4643
e-issn 1479-683X
Publication status Publié
Affiliations UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie
UCL - (SLuc) Service d'endocrinologie et diabétologie pédiatrique
MESH Subject Phenotype ; Mutation ; Membrane Proteins - genetics ; Male ; Humans ; Glucocorticoids - deficiency ; Genetic Diseases, Inborn - blood - genetics - physiopathology ; DNA Mutational Analysis ; Body Weight ; Body Height ; Base Sequence ; Adult ; Adrenocorticotropic Hormone - blood
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Bibliographic reference Rumie, H. ; Beauloye, Véronique ; Maes, Marc ; Metherell, L. A. ; Clark, A. J. L.. Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein. In: European Journal of Endocrinology, Vol. 157, no. 4, p. 539-42 (2007)
Permanent URL http://hdl.handle.net/2078.1/37257