Consolidation of the clinical and genetic definition of a SOX4- related neurodevelopmental syndrome.

Autor: Angelozzi M; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Karvande A; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Molin AN; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Ritter AL; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Leonard JMM; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Douglass K; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Myers SM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Grippa M; U.O. Genetica Medica, Universita di Bologna, Bologna, Italy., Tolchin D; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Donoghue S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hurst ACE; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Descartes M; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Smith K; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Velasco D; Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA., Schmanski A; Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA., Crunk A; GeneDx Inc, Gaithersburg, Maryland, USA., Tokita MJ; GeneDx Inc, Gaithersburg, Maryland, USA., de Lange IM; Department of Medical Genetics, University Medical Centre Utrecht Brain Centre, Utrecht, The Netherlands., van Gassen K; Department of Medical Genetics, University Medical Centre Utrecht Brain Centre, Utrecht, The Netherlands., Robinson H; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Guegan K; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Suri M; Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Bournez M; Centres de référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Dijon, Dijon, France., Faivre L; Centre de Génétique, Centre Hospitalier Universitaire de Dijon Hôpital d'Enfants, Dijon, France., Tran-Mau-Them F; Genetics of Developmental Disorders, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France.; Functional Unit 6254 Innovation in Genomic Diagnosis of Rare Diseases, CHU Dijon Bourgogne, Dijon, France., Baker J; Genomics and Genetic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Fabie N; Genomics and Genetic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Weaver K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Shillington A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Hopkin RJ; Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Barge-Schaapveld DQCM; Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp CA; Laboratory for Diagnostic Genome Analyses, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bökenkamp R; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Seco Moro MN; Clinical Analysis Department, Hospital Universitario de Móstoles, Mostoles, Spain., Díaz de Bustamante A; Department of Genetics, Hospital Universitario de Móstoles, Mostoles, Spain., Misra VK; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Discipline of Pediatrics, Central Michigan University, Mount Pleasant, Michigan, USA., Kennelly K; Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan, USA., Rogers C; Department of Molecular and Medical Genetics, Oregon Health & Science University School of Medicine, Portland, Oregon, USA., Friedman J; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Department of Neurosciences, University of California San Diego, San Diego, California, USA.; Division of Neurology, Rady Children's Hospital, San Diego, California, USA., Wigby KM; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Lenberg J; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Graziano C; Department of Pediatrics, University of California San Diego, San Diego, California, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Department of Neurosciences, University of California San Diego, San Diego, California, USA.; Division of Neurology, Rady Children's Hospital, San Diego, California, USA.; U.O. Genetica Medica, AUSL della Romagna Rimini, Cesena, Italy., Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu., Lefebvre V; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Nov; Vol. 59 (11), pp. 1058-1068. Date of Electronic Publication: 2022 Mar 01.

Diagnostic and management considerations in pseudohypoaldosteronism type 1b.

Autor: Kelchtermans J; Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA kelchtermj@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Pinney SE; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Leonard JMM; Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mcgrath-Morrow S; Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Publikováno v: BMJ case reports [BMJ Case Rep] 2022 Jan 03; Vol. 15 (1). Date of Electronic Publication: 2022 Jan 03.