A novel single base deletion at codon 434 (1301delT) of the DAX1 gene associated with prepubertal testis enlargement

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

Congenital Adrenal Hypoplasia: Clinical Spectrum, Experience with Hormonal Diagnosis, and Report on New Point Mutations of the DAX-1 Gene

Michael Peter, Matthias Viemann, Carl‐Joachim Partsch et al. · The Journal of Clinical Endocrinology & Metabolism · 1998 · 147 citations · Full text

Genetics, Adrenal Gland, Mendelian Disorder +17

X-Linked Adrenal Hypoplasia Congenita: A Mutation in DAX1Expands the Phenotypic Spectrum in Males and Females

Salvatore Seminara · The Journal of Clinical Endocrinology & Metabolism · 1999 · 137 citations

Spermatogenesis, Fertility, Genetics +26

Hypogonadotropic Hypogonadism in a Female Caused by an X-Linked Recessive Mutation in the<i>DAX1</i>Gene

Deborah P. Merke, Toshihiro Tajima, Jeffrey Baron et al. · New England Journal of Medicine · 1999 · 133 citations · Full text

Cytogenetics, Genetics, X-linked Recessive Mutation +22

Mutational Analysis of DAX1 in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay1

John C. Achermann, Wen-Xia Gu, T J Kotlar et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 86 citations · Full text

Constitutional Delay, Genetics, Clinical Presentation +17