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Keywords: MC2R
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Journal Articles
Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation
Available to Purchase
Journal:
Hormone Research in Paediatrics
Hormone Research (2008) 69 (6): 363–368.
Published Online: 17 March 2008
... and sequencing of the coding region of the melanocortin 2 receptor (MC2R) gene in this patient. Results: We report on a 3-month-old boy with familial glucocorticoid deficiency who presented at the age of 3 months with skin hyperpigmentation, muscle weakness, mild jaundice and constipation. Hormonal analyses...
