Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita
- 1 August 1998
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 133 (2) , 300-302
- https://doi.org/10.1016/s0022-3476(98)70242-2
Abstract
No abstract availableKeywords
This publication has 16 references indexed in Scilit:
- DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional ModelAmerican Journal of Human Genetics, 1998
- Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenitaThe Journal of Pediatrics, 1997
- X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosisHuman Genetics, 1996
- Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenitaJournal of Clinical Endocrinology & Metabolism, 1996
- Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.Journal of Clinical Investigation, 1996
- Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadismJournal of Clinical Endocrinology & Metabolism, 1996
- New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadismJournal of Clinical Endocrinology & Metabolism, 1996
- Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadismNature, 1994
- An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenitaNature, 1994
- Adrenal dysfunction in glycerol kinase deficiencyBiochemical Medicine, 1985