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

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

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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. Abstract Text:

H ,L A Metherell,A J L Clark,V Beauloye,M Maes,H ,L A Metherell,A J L Clark,V Beauloye,M Maes,

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.

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

H ,LA Metherell,AJ Clark,V Beauloye,M Maes,H ,LA Metherell,AJ Clark,V Beauloye,M Maes,

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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. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: European journal of endocrinology / European Feder

VOLUME: 157

Page Numbers: 539-42

Journal Abbreviation: Eur. J. Endocrinol.

ISSN: 1479-683X

DAY: 25

MONTH: Oct

YEAR: 2007

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

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LANGUAGE: eng

NlmUniqueID: 9423848

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

AFFILIATION: Departamento de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Country: England

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MEDLINETA: Eur J Endocrinol

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