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Citations to this article

Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.
C Tsigos, … , W Hung, G P Chrousos
C Tsigos, … , W Hung, G P Chrousos
Published November 1, 1993
Citation Information: J Clin Invest. 1993;92(5):2458-2461. https://doi.org/10.1172/JCI116853.
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Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.

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Authors

C Tsigos, K Arai, W Hung, G P Chrousos

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Total citations by year

Year: 2023 2022 2020 2019 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 2002 2001 2000 1999 1998 1997 1996 1995 1994 1993 1991 1976 Total
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MP Wajnrajch, JM Gertner, MD Harbison, SC Chua, RL Leibel
Journal of Endocrinology 1976

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