A Novel Intronic Pathogenic Variant in <i>STAR</i> With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.

Finn, Erin; Kripps, Kimberly; Chambers, Christina; Rapp, Michele; Meeks, Naomi J L; Xu, Fang; Chen, Wuyan; Larson, Austin A; Nokoff, Natalie J

A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.

Finn, Erin; Kripps, Kimberly; Chambers, Christina; Rapp, Michele; Meeks, Naomi J L; Xu, Fang; Chen, Wuyan; Larson, Austin A; Nokoff, Natalie J.

Afiliação

Finn E; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Kripps K; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Chambers C; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Rapp M; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Meeks NJL; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Xu F; PreventionGenetics, Marshfield, WI, USA.
Chen W; PreventionGenetics, Marshfield, WI, USA.
Larson AA; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Nokoff NJ; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

J Investig Med High Impact Case Rep ; 9: 23247096211014685, 2021.

Article em En | MEDLINE | ID: mdl-33966472

Assuntos

Hiperplasia Suprarrenal Congênita; Insuficiência Adrenal; Transtorno 46,XY do Desenvolvimento Sexual; Hiperplasia Suprarrenal Congênita/genética; Humanos; Masculino; Fosfoproteínas

Palavras-chave

STAR; endocrinology; genetics and molecular medicine; lipoid congenital adrenal hyperplasia; pediatrics

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Insuficiência Adrenal / Hiperplasia Suprarrenal Congênita / Transtorno 46,XY do Desenvolvimento Sexual Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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