Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
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| Title: | Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. |
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| Authors: | von der Lippe C; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Prescott TE; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Burke KB; All Wales Medical Genomics Service, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK., Sansbury FH; All Wales Medical Genomics Service, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK., Baptista J; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Fry AE; All Wales Medical Genomics Service, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK., Lim D; Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Jolles S; Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, UK., Evans J; Department of Paediatrics, University Hospital of Wales, Cardiff, UK., Osio D; Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Macmillan C; Department of Pediatrics, University of Chicago, Chicago, Illinois, USA., Bruno I; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Faletra F; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Climent S; Pediatrics Service, Hospital General d'Ontinyent, Ontinyent, Spain., Urreitzi R; Department of Clinical Biochemistry and CIBERER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine - IPER and CIBERER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Palau F; Laboratory of Neurogenetics and Molecular Medicine - IPER and CIBERER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Genetic Medicine - IPER, Hospital Sant Joan de Déu, Barcelona, Spain.; Hospital Clínic and Division of Pediatrics, School of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain., Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA., Engleman K; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Zhou D; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Amudhavalli SM; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Jeanne M; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Excellence Center in Autism and Neurodevelopmental Disorders, Centre Hospitalier Régional Universitaire, Tours, France., Bonnet-Brilhault F; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Excellence Center in Autism and Neurodevelopmental Disorders, Centre Hospitalier Régional Universitaire, Tours, France., Lévy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France., Drunat S; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France., Derive N; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France., Haug MG; Department of Medical Genetics, St. Olavs University Hospital, Trondheim, Norway., Thorstensen WM; Department of Otolaryngology, Head and Neck Surgery, St. Olavs University Hospital, Trondheim, Norway.; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology (NTNU), Trondheim, Norway. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 272-282. Date of Electronic Publication: 2021 Sep 13. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62492 |
