Variable Phenotypes in Familial Isolated Growth Hormone Deficiency Caused by a G6664A Mutation in the GH-1 Gene

Author:

Hess Ora12,Hujeirat Yasir1,Wajnrajch Michael P.3,Allon-Shalev Stavit41,Zadik Zvi5,Lavi Idit6,Tenenbaum-Rakover Yardena47

Affiliation:

1. Faculty of Genetic Institute (O.H., Y.H., S.A.-S.), Ha’ Emek Medical Center, 18101 Afula, Israel

2. Faculty of Sciences (O.H.), Bar Ilan University, Ramat Gan 52900, Israel

3. Faculty of Pfizer Inc. (M.P.W.), New York, New York 10017

4. Faculty of Technion Faculty of Medicine (S.A.-S., Y.T.-R.), Haifa 31096, Israel

5. Faculty of Pediatric Endocrine Unit (Z.Z.), Kaplan Medical Center, Rehovot and the Hebrew University of Jerusalem, Jerusalem, 76100, Israel

6. Department of Community Health and Epidemiology (I.L.), Carmel Medical Center, Haifa 34362, Israel

7. Faculty of Pediatric Endocrine Unit (Y.T.-R.), Ha’ Emek Medical Center, 18101 Afula, Israel

Publisher

The Endocrine Society

Subject

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

Reference31 articles.

1. Inherited defects in growth hormone synthesis and action;Phillips III;In: Scriver C, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. 7th ed. New York: McGraw-Hill;,1995

2. Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment.;Dattani;Lancet,2004

3. Isolated growth hormone deficiency and the GH-1 gene: update.;Binder;Horm Res,2002

4. Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations.;Mullis;Pediatr Res,1992

5. Screening for growth hormone gene deletions in patients with isolated growth hormone deficiency.;Kamijo;J Pediatr,1991

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