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An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko, Mahmoud; Yahia, Ashraf; Elsayed, Liena E; Hamed, Ahlam A; Mohammed, Inaam N; Elseed, Maha A; Hamad, Muddathir H A; Babai, Arwa M; Siddig, Rayan A; Abd Allah, Amal S I; Mohamed, Mayada; El-Amin, Melka; Esteves, Typhaine; Altmüller, Janine; Toliat, Mohammad Reza; Thiele, Holger; Nürnberg, Peter; Salih, Mustafa A; Ahmed, Ammar E; Lerche, Holger; Stevanin, Giovanni.
Afiliação
  • Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany.
  • Yahia A; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Elsayed LE; Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.
  • Hamed AA; Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne Université, Paris, France.
  • Mohammed IN; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Elseed MA; College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.
  • Hamad MHA; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Babai AM; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Siddig RA; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Abd Allah ASI; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Mohamed M; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
  • El-Amin M; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
  • Esteves T; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
  • Altmüller J; Council of Diagnostic Radiology, Sudan Medical Specialization Board, Khartoum, Sudan.
  • Toliat MR; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
  • Thiele H; Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne Université, Paris, France.
  • Nürnberg P; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France.
  • Salih MA; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Ahmed AE; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Lerche H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Stevanin G; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Ann Hum Genet ; 85(5): 186-195, 2021 09.
Article em En | MEDLINE | ID: mdl-34111303
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Splicing de RNA / Monoéster Fosfórico Hidrolases / Hipocinesia / Distonia / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies Limite: Child / Child, preschool / Female / Humans / Male País/Região como assunto: Africa Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Splicing de RNA / Monoéster Fosfórico Hidrolases / Hipocinesia / Distonia / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies Limite: Child / Child, preschool / Female / Humans / Male País/Região como assunto: Africa Idioma: En Ano de publicação: 2021 Tipo de documento: Article