Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation - Sudrié-Arnaud, Bénédicte; Marguet, Florent; Patrier, Sophie; Martinovic, Jelena; Louillet, Ferielle; Broux, Françoise; Charbonnier, Françoise; Dranguet, Hélène; Coutant, Sophie; Vezain, Myriam; Lanos, Raphaël; Tebani, Abdellah; et al. (Clinica chimica acta, 2018)
Keywords: Endocrinology and metabolism; Genetics; Genomics; Human health and pathology; Hydrops fetalis; Inborn errors of metabolism; Inherited metabolic diseases; Life Sciences; Next-generation sequencing; Non-immune hydrops fetalis; Polyhydramnios; Precision medicine; Prenatal diagnosis; Inborn errors of metabolism; Inherited metabolic diseases; Genomics; IEM; Non-immune hydrops fetalis; Next-generation sequencing; Prenatal diagnosis; Precision medicine; Hydrops fetalis; NGS; Polyhydramnios; LSD; NIHF