Article
Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.
JAMA - 26 Jul 1995
Guo W, Mason J S, Stone C G, Morgan S A, Madu S I, Baldini A, Lindsay E A, Biesecker L G, Copeland K C, Horlick M N
Abstract excerpt
OBJECTIVE: To develop a rapid diagnostic approach to individuals with the X-linked cytomegalic form of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to mutations in DAX1, a new member of the nuclear hormone receptor gene superfamily. DESIGN: Molecular genetic diagn...
Topics
- Adrenal Insufficiency
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- DAX-1 Orphan Nuclear Receptor
- DNA Mutational Analysis
- DNA-Binding Proteins
- Gene Deletion
- Genetic Linkage
- Genetic Testing
- Humans
- Hypogonadism
- In Situ Hybridization, Fluorescence
- Male
- Molecular Sequence Data
- Mutation
- Pedigree