Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene

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Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene

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2015 nî lūn-bûn

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2015年学术文章

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Clinical and molecular genetic ...... ion 1268delA in the DAX-1 gene

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Clinical and molecular genetic ...... ion 1268delA in the DAX-1 gene

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Clinical and molecular genetic ...... ion 1268delA in the DAX-1 gene

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Clinical and molecular genetic ...... ion 1268delA in the DAX-1 gene

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Clinical and molecular genetic ...... ion 1268delA in the DAX-1 gene

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Clinical and molecular genetic ...... ion 1268delA in the DAX-1 gene

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Clinical and molecular genetic ...... ion 1268delA in the DAX-1 gene

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Cheng-jiang Li

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Dan Ye

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Feng-qin Dong

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Ye Feng

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Ying Tong

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Zhe Zhang

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Molecular mechanisms of DAX1 action

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis

Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Hormonal and developmental regulation of DAX-1 expression in Sertoli cells

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita.

DAX-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X-chromosome, gene 1) selectively inhibits transactivation but not transrepression mediated by the glucocorticoid receptor in a LXXLL-dependent manner.

Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.

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jzus.b1400322

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963-968

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scholarly article

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10.1631/JZUS.B1400322

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2015-11-01T00:00:00Z

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1033753999

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26537215

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birth defect

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4642878

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