A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the <i>NR3C2</i> Gene at 4q31.23.

Kim, Su Jin; Park, Dasom; Jang, Woori; Lee, Juyoung

A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the NR3C2 Gene at 4q31.23.

Kim, Su Jin; Park, Dasom; Jang, Woori; Lee, Juyoung.

Afiliação

Kim SJ; Department of Pediatrics, Inha University Hospital, Incheon 22332, Korea.
Park D; Department of Pediatrics, Inha University College of Medicine, Incheon 22332, Korea.
Jang W; Northwest Gyeonggi Regional Center for Rare Disease, Inha University Hospital, Incheon 22332, Korea.
Lee J; Department of Pediatrics, Inha University Hospital, Incheon 22332, Korea.

Children (Basel) ; 8(12)2021 Nov 25.

Article em En | MEDLINE | ID: mdl-34943285

Palavras-chave

NR3C2 gene; dehydration; hyperkalemia; hyponatremia; mineralocorticoid receptors; neonate; pseudohypoaldosteronism

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Children (Basel) Ano de publicação: 2021 Tipo de documento: Article

Texto completo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Children (Basel) Ano de publicação: 2021 Tipo de documento: Article