Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
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| Title: | Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG). |
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| Authors: | Ghasemi MR; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Fateh ST; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Ben-Mahmoud A; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Gupta V; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Lesca G; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France, Lyon, France.; University Claude Bernard Lyon 1, Lyon, France., Chatron N; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France, Lyon, France.; University Claude Bernard Lyon 1, Lyon, France., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Edery P; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France, Lyon, France.; GENDEV Team, INSERM U1028, CNRS UMR5292, Lyon Neuroscience Research Centre, Lyon, France., Sadeghi H; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Schulz HL; Zentrum für Humangenetik Tübingen, Tübingen, Germany., Krauspe-Stübecke I; Bethlehem Health Center Department of Pediatrics and Adolescent Medicine 5, Stolberg, Germany., Periyasamy R; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India., Mirfakhraie R; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Alijanpour S; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Syrbe S; Division for Pediatric Epileptology, Heidelberg University Hospital, Heidelberg, Germany., Pfeifer U; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany., Spranger S; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany., Grundmann-Hauser K; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany., Papadopoulou MT; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France., da Silva Gonçalves T; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France., Panagiotakaki E; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France., Arzimanoglou A; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, France.; Sant Joan De Déu Children's Hospital, Member of the ERN EpiCARE, University of Barcelona, Institut de Recerca Sant Joan de Déu, Spain., Tonekaboni SH; Pediatric Neurology Excellence Center, Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran., Rossi M; GENDEV Team, INSERM U1028, CNRS UMR5292, Lyon Neuroscience Research Centre, Lyon, France.; Department of Genetics, Lyon University Hospitals, Lyon, France., Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany., Lacassie Y; Division of Genetics, Department of Pediatrics, Louisiana State University Health Science Center and Children's Hospital, New Orleans, Louisiana, USA., Jang MH; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, the State University of New Jersey, Piscataway, New Jersey, USA., Layman LC; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, Georgia, USA.; Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, Georgia, USA., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, the State University of New Jersey, Piscataway, New Jersey, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 May; Vol. 197 (5), pp. e63963. Date of Electronic Publication: 2024 Dec 20. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| 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.63963 |
