Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein

Author:

Rughani Ankur1ORCID,Zhang Dongsheng23,Vairamani Kanimozhi34ORCID,Dauber Andrew56ORCID,Hwa Vivian23ORCID,Krishnan Sowmya1ORCID

Affiliation:

1. Section of Diabetes and Endocrinology Department of Pediatrics University of Oklahoma Health Sciences Center Oklahoma City Oklahoma

2. Division of Endocrinology Cincinnati Center for Growth Disorders Cincinnati Children's Hospital Medical Center Cincinnati Ohio

3. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio

4. Division of Oncology, Cancer and Blood Diseases Institute Cincinnati Children's Hospital Medical Center Cincinnati Ohio

5. Division of Endocrinology Children's National Hospital Washington District of Columbia

6. Department of Pediatrics George Washington School of Medicine and Health Sciences Washington District of Columbia

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference19 articles.

1. The Insulin-Like Growth Factors and Growth Disorders of Childhood

2. Growth hormone receptor mutations in children with idiopathic short stature;Sanchez JE;J Clin Endocrinol Metab,1998

3. Fifty seven years of follow-up of the Israeli cohort of Laron Syndrome patients—From discovery to treatment

4. Insulin‐like growth factor‐I treatment of children with Laron syndrome (primary growth hormone insensitivity);Laron Z;Pediatr Endocrinol Rev,2008

5. Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders

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