Associated Papers
Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita.
Mantovani RM et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2009
A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
Ahmad I et al.
Hormone Research, 2007
Genetic disorders involving adrenal development.
Lin L et al.
Endocrine Development, 2007
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
Lin L et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
A novel single base deletion at codon 434 (1301delT) of the DAX1 gene associated with prepubertal testis enlargement.
Argente J et al.
Molecular Genetics and Metabolism, 2003
[Contiguous gene deletion syndrome in Xp21: an unusual form of presentation].
Sanz-Ruiz I et al.
Revista De Neurologia, 0
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