Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies.

Autor: Allen SK; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham, UK., Chandler NJ; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Kinning E; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Foundation Trust, Birmingham, UK., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Brothwell SLC; Department of Inherited Metabolic Diseases, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Vijay S; Department of Inherited Metabolic Diseases, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Castleman J; Fetal Medicine Department, Birmingham Women's and Children's Foundation Trust, Birmingham, UK., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 432-442. Date of Electronic Publication: 2023 Dec 08.