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The New England Journal of Medicine, ISSN 0028-4793, 06/2013, Volume 368, Issue 26, pp. 2467 - 2475
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2013, Volume 368, Issue 26, p. 2467
The study aims to evaluate the association, if any, between mutations in the imprinted gene MKRN3 and central precious puberty, The results indicate that a... 
Genetic aspects | Research | Gene mutations | Risk factors | Precocious puberty
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2001, Volume 72, Issue 1, p. 39
Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is an inherited disorder in which progressive degeneration of magnocellular neurons of the... 
Analysis | Diabetes insipidus | Development and progression | Genetic aspects | Diabetes | Glycine | Vasopressin | Neurophysiology
Journal Article
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 1997, Volume 82, Issue 11, pp. 3643 - 3646
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 11/1997, Volume 82, Issue 11, pp. 3643 - 3646
Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is an inherited disease caused by progressive degeneration of the magnocellular neurons of the... 
Journal Article
Journal Article
2011, Advances in Experimental Medicine and Biology, ISBN 9781441980014, Volume 707, 6
An 11-year-old, raised as a male, presented for evaluation of ambiguous genitalia and early puberty. On examination he was noted to have a large phallic-like... 
Human Genetics | Biomedicine | Endocrinology | Reproductive Medicine | CONGENITAL ADRENAL-HYPERPLASIA | MANAGEMENT | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | INTERSEX | Male | Child | Adrenal Hyperplasia, Congenital - diagnosis | Humans | Adrenal Hyperplasia, Congenital - physiopathology
Book Chapter
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