An Intronic Growth Hormone Receptor Mutation Causing Activation of a Pseudoexon Is Associated with a Broad Spectrum of Growth Hormone Insensitivity Phenotypes-Reference-Cited by-同舟云学术

An Intronic Growth Hormone Receptor Mutation Causing Activation of a Pseudoexon Is Associated with a Broad Spectrum of Growth Hormone Insensitivity Phenotypes

Published:2006-12-05 Issue:2 Volume:92 Page:655-659
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

David A.¹,Camacho-Hübner C.¹,Bhangoo A.²,Rose S. J.³,Miraki-Moud F.¹,Akker S. A.¹,Butler G. E.⁴,Ten S.²,Clayton P. E.⁵,Clark A. J. L.¹,Savage M. O.¹,Metherell L. A.¹

Affiliation:

1. Centre for Endocrinology (A.D., C.C.-H., F.M.-M., S.A.A., A.J.L.C., M.O.S., L.A.M.), William Harvey Research Institute, Barts and the London, Queen Mary, University of London, London EC1M 6BQ, United Kingdom

2. Pediatric Endocrinology Division (A.B., S.T.), Infant’s and Children’s Hospital of Brooklyn at Maimonides, Brooklyn, New York 11219

3. Department of Paediatrics (S.J.R.), Heartlands Hospital, Birmingham B9 5SS, United Kingdom

4. Department of Paediatrics (G.E.B.), Leeds General Infirmary, Leeds LS1 3EX, United Kingdom

5. Endocrine Science Research Group (P.E.C.), School of Medicine, University of Manchester, Manchester M13 9PT, United Kingdom

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/92/2/655/9053086/jcem0655.pdf

Reference23 articles.

1. Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958–2003.;Laron;J Clin Endocrinol Metab,2004

2. Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders.;Savage;Nat Clin Pract Endocrinol Metab,2006

3. Diagnostic and therapeutic advances in growth hormone insensitivity.;David;Endocrinol Metab Clin North Am,2005

4. Growth hormone (GH) insensitivity due to primary GH receptor deficiency.;Rosenfeld;Endocr Rev,1994

5. Phenotype: genotype relationships in growth hormone insensitivity syndrome.;Woods;J Clin Endocrinol Metab,1997

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