Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.

Reutens, A T; Achermann, J C; Ito, M; Ito, M; Gu, W X; Habiby, R L; Donohoue, P A; Pang, S; Hindmarsh, P C; Jameson, J L

Reutens, A T; Achermann, J C; Ito, M; Ito, M; Gu, W X; Habiby, R L; Donohoue, P A; Pang, S; Hindmarsh, P C; Jameson, J L.

Affiliation

Reutens AT; Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, Chicago, Illinois 60611, USA.

J Clin Endocrinol Metab ; 84(2): 504-11, 1999 Feb.

Article in En | MEDLINE | ID: mdl-10022408

Subject(s)

Adrenal Insufficiency/genetics; DNA-Binding Proteins/genetics; Mutation; Receptors, Retinoic Acid/genetics; Repressor Proteins; Transcription Factors/genetics; Adrenal Insufficiency/congenital; Adult; Child; Child, Preschool; Codon; DAX-1 Orphan Nuclear Receptor; DNA Mutational Analysis; Female; Frameshift Mutation; Genetic Linkage; Humans; Hypogonadism/genetics; Infant; Infant, Newborn; Male; Pedigree; Steroidogenic Factor 1; X Chromosome

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Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Transcription Factors / Receptors, Retinoic Acid / Adrenal Insufficiency / DNA-Binding Proteins / Mutation Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Clin Endocrinol Metab Year: 1999 Document type: Article Affiliation country: United States Country of publication: United States

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