A novel mutation inIGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1)-Reference-Cited by-同舟云学术

A novel mutation inIGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1)

Published:2013-04-13 Issue:6 Volume:79 Page:838-844
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Hess Ora¹,Khayat Morad²,Hwa Vivian³,Heath Karen E.⁴,Teitler Amnon⁵,Hritan Yifat⁵,Allon-Shalev Stavit²⁶,Tenenbaum-Rakover Yardena¹⁶

Affiliation:

1. Pediatric Endocrine Institute; Ha'Emek Medical Center; Afula Israel

2. Genetic Institute; Ha'Emek Medical Center; Afula Israel

3. Department of Pediatrics; Oregon Health and Science University; Portland OR USA

4. Institute of Medical & Molecular Genetics (INGEMM); Hospital Universitario La Paz; Universidad Autónoma de Madrid, IdiPAZ, and CIBERER, ISCIII; Madrid Spain

5. Immunology Laboratory; Ha'Emek Medical Center; Afula Israel

6. The Ruth & Rappoport School of Medicine; Technion; Haifa Israel

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

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4. Deficiency of the insulin-like growth factor-binding protein acid-labile subunit (ALS) of the circulating ternary complex in children with short stature;Domené;Pediatric Endocrinology Reviews,2010

5. Inactivation of the acid labile subunit gene in mice results in mild retardation of postnatal growth despite profound disruptions in the circulating insulin-like growth factor system;Ueki;Proceedings of the National Academy of Sciences of the United States of America,2000

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