Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.

Crenshaw, Molly M; Thompson, Lauren; Piqué, Daniel G; Micke, Kestutis; Saenz, Margarita; Baker, Peter R

Crenshaw, Molly M; Thompson, Lauren; Piqué, Daniel G; Micke, Kestutis; Saenz, Margarita; Baker, Peter R.

Afiliação

Crenshaw MM; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine (CU-SOM), Aurora, Colorado, USA.
Thompson L; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine (CU-SOM), Aurora, Colorado, USA.
Piqué DG; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine (CU-SOM), Aurora, Colorado, USA.
Micke K; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine (CU-SOM), Aurora, Colorado, USA.
Saenz M; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, CU-SOM, Aurora, Colorado, USA.
Baker PR; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine (CU-SOM), Aurora, Colorado, USA.

Am J Med Genet A ; 191(12): 2860-2867, 2023 12.

Article em En | MEDLINE | ID: mdl-37589195

Assuntos

Epilepsia; Hérnias Diafragmáticas Congênitas; Humanos; Masculino; Glicosilação; Hérnias Diafragmáticas Congênitas/genética; Mutação de Sentido Incorreto; Irmãos

Palavras-chave

PIGA; congenital diaphragmatic hernia; congenital disorder of glycosylation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Hérnias Diafragmáticas Congênitas Tipo de estudo: Prognostic_studies Limite: Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos

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