A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Elena Zanaria, Françoise Muscatelli, Barbara Bardoni et al. · Nature · 1994 · 860 citations

Medicine, Endocrinology, Molecular Genetics +16

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Françoise Muscatelli, Tim M. Strom, Ann P. Walker et al. · Nature · 1994 · 769 citations

Medicine, Endocrinology, Genetics +16

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.

Reema L. Habiby, Paul A. Boepple, Lila E. Nachtigall et al. · Journal of Clinical Investigation · 1996 · 257 citations · Full text

Medicine, Endocrinology, Genetics +17

X-Linked Adrenal Hypoplasia Congenita: A Mutation in<i>DAX1</i>Expands the Phenotypic Spectrum in Males and Females¹

Stephanie B. Seminara, John C. Achermann, Myron Genel et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 161 citations · Full text

Medicine, Endocrinology, Genetics +17

Clinical and Functional Effects of Mutations in the<i>DAX-1</i>Gene in Patients with Adrenal Hypoplasia Congenita¹

Anne T. Reutens, John C. Achermann, Masafumi Ito et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 154 citations · Full text

Medicine, Endocrinology, Genetics +16