Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not? - Favier, Maud; Delanne, Julian; Gorincour, Guillaume; Faivre, Laurence; Racine, Caroline; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Rousseau, Thierry; Martz, Olivia; Tarris, Georges; Oualiken, Camélia; et al. (Prenatal diagnosis, 2024)
Keywords: Akinesia; Arthrogryposis; Atrophy; Brain; Brain stem; Carrier Proteins - genetics; Cerebellum; Congenital defects; Diagnosis; Diagnosis, Dual (Psychiatry); Female; Fetus - diagnostic imaging; Fetuses; Fractures; Genetic abnormalities; Genotype & phenotype; Genotypes; Gestation; Humans; Hydrops fetalis; Hypoplasia; Lymphangioma, Cystic - diagnostic imaging; Lymphangioma, Cystic - genetics; Medical diagnosis; Neurodevelopmental disorders; Phenotype; Phenotypes; Pregnancy; Prenatal Diagnosis; Sequence analysis; Spinal muscular atrophy; Teeth