Novel insertion frameshift mutation of the LH receptor gene : problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis
- Author
- RICHTER-UNRUH, A1 ; KORSCH, E2 ; HIORT, O3 ; HOLTERHUS, P. M3 ; THEMMEN, A. P4 ; WUDY, S. A5
[1] Department of Pediatric Hematology, Oncology and Endocrinology, University Children's Hospital, Hufelandstr. 55, University of Essen, 45 122 Essen, Germany
[2] Department of Pediatrics, Children's Hospital of Cologne, Germany
[3] Department of Pediatric Endocrinology, University Children's Hospital, University of Schleswig-Holstein, Campus, Lübeck, Germany
[4] Department of Internal Medicine, Erasmus MC, Rotterdam, Netherlands
[5] Steroid Research Unit, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany - Source
European journal of endocrinology. 2005, Vol 152, Num 2, pp 255-259, 5 p ; ref : 26 ref
- ISSN
- 0804-4643
- Scientific domain
- Endocrinology
- Publisher
- Portland Press, Colchester
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Biosynthèse Cellule Leydig Endocrinologie Enzyme Gène Génétique Hypoplasie Mutation cadre lecture Mutation insertion Récepteur LH Testostérone Androgène Appareil génital mâle Hormone stéroïde sexuelle Hormone testiculaire Malformation Testicule
- Keyword (en)
- Biosynthesis Leydig cell Endocrinology Enzyme Gene Genetics Hypoplasia Frameshift mutation Insertion mutation LH receptor Testosterone Androgen Male genital system Sex steroid hormone Testicular hormone Malformation Testicle
- Keyword (es)
- Biosíntesis Célula Leydig Endocrinología Enzima Gen Genética Hipoplasia Mutación frameshift Mutación inserción Receptor hormona luteinizante Testosterona Andrógeno Aparato genital macho Hormona esteroide sexual Hormona testicular Malformación Testículo
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A28 Vertebrates: endocrinology
- Discipline
- Endocrinopathies Vertebrates : endocrinology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16590766
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1530/eje.1.01852 
https://dx.doi.org/10.1530/eje.1.01852
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