Congenital adrenal hypoplasia: Clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of DAX-1 gene
Peter M., Viemann M., Partsch CJ, Sippel WG Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of DAX-1 gene. J Clin Endocrinol Metab. 1998; 83: 2666-2673.
Characterisation of a Xp21 microdeletion syndrome in a 2 year old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita
Sturhrmann M., Heilbronner H., Reis A., et al. Characterisation of a Xp21 microdeletion syndrome in a 2 year old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita. Hum Genet. 1991; 86: 414-415.
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs
Renier WO, Nabben FA, Hustinx TW, et al. Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs. Clin Genet. 1983; 24: 243-251.
Intelligence and Duchenne muscular dystrophy: Full scale, verbal and performance intelligence quotients
Cotton S., Voudouris NJ, Greenwood KM Intelligence and Duchenne muscular dystrophy: full scale, verbal and performance intelligence quotients. Dev Med Child Neurol. 2001; 43: 497-501.
Deletion status and intellectual impairment in Duchenne muscular dystrophy
Bushby KM, Appleton R., Anderson LV, et al. Deletion status and intellectual impairment in Duchenne muscular dystrophy. Dev Med Child Neurol. 1995; 37: 260-269.
Adrenal hypoplasia congenital with hypogonadotropic hypogonadism: Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production
Habiby RL, Boepple P., Nachtigall L., et al. Adrenal hypoplasia congenital with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production. J Clin Invest. 1996; 98: 1055-1062.