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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 diagnostic investigations of individuals with AHC and their relatives included polymerase chain reaction amplification of...

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PMID: 7609262

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Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.PMID 7609262Read ↗

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The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily.Semantic proximity Read ↗

Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1.Semantic proximity Read ↗

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