Unusual Presentation of Familial Glucocorticoid Deficiency with a NovelMRAPMutation-Reference-Cited by-同舟云学术

Unusual Presentation of Familial Glucocorticoid Deficiency with a NovelMRAPMutation

Published:2006-10-01 Issue:10 Volume:91 Page:3713-3717
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Modan-Moses Dalit¹²,Ben-Zeev Bruria³²,Hoffmann Chen⁴,Falik-Zaccai Tzipora C.⁵,Bental Yoram A.⁶,Pinhas-Hamiel Orit¹²,Anikster Yair⁷²

Affiliation:

1. Pediatric Endocrinology Unit (D.M.-M., O.P.-H.), Tel-Hashomer 52621, Israel

2. Sackler School of Medicine (D.M.-M., B.B.-Z., O.P.-H., Y.A.), Tel Aviv University, Tel Aviv 69978, Israel

3. Pediatric Neurology Unit (B.B.-Z.), Tel-Hashomer 52621, Israel

4. The Edmond and Lily Safra Children’s Hospital, and Department of Diagnostic Imaging (C.H.), Sheba Medical Center, Tel-Hashomer 52621, Israel

5. Division of Medical Genetics (T.C.F.-Z.), Hospital of Western Galilee-Naharia, Naharia 22386 Israel; Rappaport Faculty of Medicine, Technion, Haifa 31096, Israel

6. Department of Neonatology (Y.A.B.), Laniado Medical Center, Netanya 42150, Israel

7. Metabolic Disease Unit (Y.A.), Tel-Hashomer 52621, Israel

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/91/10/3713/9059517/jcem3713.pdf

Reference28 articles.

1. Familial Addison’s disease;Shepard;Am J Dis Child,1959

2. Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis;Thistlethwaite;Arch Dis Child,1975

3. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor;Clark;Lancet,1993

4. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene;Tsigos;J Clin Invest,1993

5. Adrenocorticotropin insensitivity syndromes;Clark;Endocr Rev,1998

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