STARsplicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases-Reference-Cited by-同舟云学术

STARsplicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases

Published:2013-08-17 Issue:2 Volume:80 Page:191-199
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Camats Núria¹,Pandey Amit V.¹,Fernández-Cancio Mónica²,Fernández Juan M.³,Ortega Ana M.³,Udhane Sameer¹,Andaluz Pilar²,Audí Laura²,Flück Christa E.¹

Affiliation:

1. Pediatric Endocrinology; Department of Pediatrics and Department of Clinical Research; University Children's Hospital Bern; Bern Switzerland

2. Pediatric Endocrinology Research Unit; Vall d'Hebron Institut de Recerca (VHIR); Hospital Universitari Vall d'Hebron; Universitat Autònoma de Barcelona; Center for Biomedical Research on Rare Diseases (CIBERER); Instituto de Salud Carlos III; Barcelona Spain

3. Pediatric Endocrinology Service; Hospital Clínico; Granada Spain

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference36 articles.

1. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis;Lin;Science,1995

2. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia;Bose;The New England Journal of Medicine,1996

3. A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia;Fluck;Journal of Clinical Endocrinology and Metabolism,2005

4. Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency;Metherell;Journal of Clinical Endocrinology and Metabolism,2009

5. Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia;Fluck;PLoS One,2011

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