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Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Uctepe, Eyyup; Vona, Barbara; Esen, Fatma Nisa; Sonmez, F Mujgan; Smol, Thomas; Tümer, Sait; Mancilar, Hanifenur; Geylan Durgun, Dilan Ece; Boute, Odile; Moghbeli, Meysam; Ghayoor Karimiani, Ehsan; Hashemi, Narges; Bakhshoodeh, Behnoosh; Kim, Hyung Goo; Maroofian, Reza; Yesilyurt, Ahmet.
Affiliation
  • Uctepe E; Acibadem Ankara Tissue Typing Laboratory, Ankara, Türkiye.
  • Vona B; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.
  • Esen FN; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.
  • Sonmez FM; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.
  • Smol T; Department of Child Neurology, Faculty of Medicine, Retired lecturer, Karadeniz Technical University, Trabzon, Türkiye.
  • Tümer S; Private Office, Ankara, Türkiye.
  • Mancilar H; Institut de Génétique Médicale, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000, Lille, France.
  • Geylan Durgun DE; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.
  • Boute O; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.
  • Moghbeli M; Ultramar Medical Imaging Center, Ankara, Türkiye.
  • Ghayoor Karimiani E; Clinique de Génétique, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000, Lille, France.
  • Hashemi N; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Bakhshoodeh B; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.
  • Kim HG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Maroofian R; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Yesilyurt A; Mashhad University of Medical Sciences, Mashhad, Iran.
Eur J Hum Genet ; 32(1): 52-60, 2024 Jan.
Article in En | MEDLINE | ID: mdl-37880421
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Lissencephaly / Neurodevelopmental Disorders Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Country of publication: Reino Unido
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Lissencephaly / Neurodevelopmental Disorders Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Country of publication: Reino Unido