Likely pathogenic variant in the BICD2 gene in fetus presenting with non-immune hydrops.

Chandler, Natalie; Brace, Poppy; Roberts, Rowenna; Mellis, Rhiannon

Chandler, Natalie; Brace, Poppy; Roberts, Rowenna; Mellis, Rhiannon.

Afiliação

Chandler N; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Brace P; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Roberts R; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Mellis R; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Prenat Diagn ; 43(6): 727-729, 2023 06.

Article em En | MEDLINE | ID: mdl-37173812

Assuntos

Proteínas Associadas aos Microtúbulos; Atrofia Muscular Espinal; Humanos; Feminino; Gravidez; Proteínas Associadas aos Microtúbulos/genética; Hidropisia Fetal/diagnóstico; Hidropisia Fetal/genética; Mutação de Sentido Incorreto; Atrofia Muscular Espinal/genética; Feto/patologia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Proteínas Associadas aos Microtúbulos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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