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European Journal of Human Genetics, ISSN 1018-4813, 06/2006, Volume 14, Issue 6, pp. 773 - 779
Journal Article
Endocrine Connections, ISSN 2049-3614, 03/2018, Volume 7, Issue 3, pp. 395 - 402
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The... 
Rare diseases | Paediatric endocrinology | Puberty | Steroidogenesis | DIAGNOSIS | STEROIDS | 21-HYDROXYLASE DEFICIENCY | steroidogenesis | PUBERTAL BOY | CONGENITAL ADRENAL-HYPERPLASIA | paediatric endocrinology | rare diseases | HSD3B2 GENE | MEN | ENDOCRINOLOGY & METABOLISM | puberty | MUTATIONS | ANDROGENS | HYPOGONADOTROPIC HYPOGONADISM
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 01/2016, Volume 174, Issue 1, pp. 1 - 8
Context and objective: Idiopathic central precocious puberty (iCPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis in the absence of... 
GIRLS | ENDOCRINOLOGY & METABOLISM | Puberty | Frameshift Mutation | Humans | Child, Preschool | Male | Mutation, Missense | Mothers | Puberty, Precocious - genetics | Phenotype | Pedigree | Female | Heterozygote | Italy | Ribonucleoproteins - genetics | Fathers | Mutation | France | Child
Journal Article
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2019, p. jmedgenet-2019-106328
BackgroundThe type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II.... 
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2009, Volume 94, Issue 10, pp. 3913 - 3921
Journal Article
Sexual Development, ISSN 1661-5425, 02/2018, Volume 11, Issue 5-6, pp. I - IV
Journal Article
Molecular Endocrinology, ISSN 0888-8809, 11/2009, Volume 23, Issue 11, pp. 1936 - 1936
ABSTRACT Context IGF-I is essential for fetal and postnatal development. Only three IGF1 defects leading to dramatic loss of binding to its type 1 receptor,... 
Translational Highlights from Jcem
Journal Article