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MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
Rad, Abolfazl; Altunoglu, Umut; Miller, Rebecca; Maroofian, Reza; James, Kiely N; Çaglayan, Ahmet Okay; Najafi, Maryam; Stanley, Valentina; Boustany, Rose-Mary; Yesil, Gözde; Sahebzamani, Afsaneh; Ercan-Sencicek, Gülhan; Saeidi, Kolsoum; Wu, Kaman; Bauer, Peter; Bakey, Zeineb; Gleeson, Joseph G; Hauser, Natalie; Gunel, Murat; Kayserili, Hulya; Schmidts, Miriam.
  • Rad A; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Altunoglu U; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, Iran.
  • Miller R; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Maroofian R; Inova Cardiovascular Genomics Clinic, Inova Translational Medicine Institute, Falls Church, Virginia, USA.
  • James KN; Genetics and Molecular Cell Sciences Research Centre, St George's, University of London, London, UK.
  • Çaglayan AO; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, California, USA.
  • Najafi M; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, Yale University, New Haven, Connecticut, USA.
  • Stanley V; Medical Genetics Department, Bilim University School of Medicine, Istanbul, Turkey.
  • Boustany RM; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Yesil G; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, California, USA.
  • Sahebzamani A; Department of Pediatrics and Adolescent Medicine, Neurogenetics Program and Division of Pediatric Neurology, American University of Beirut Medical Center Special Kids Clinic, Beirut, Lebanon.
  • Ercan-Sencicek G; Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
  • Saeidi K; Medical Genetics Department, Bezmi Alem University School of Medicine, Istanbul, Turkey.
  • Wu K; Paediatric and Genetic Counselling Center, Kerman Welfare Organization, Kerman, Iran.
  • Bauer P; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, Yale University, New Haven, Connecticut, USA.
  • Bakey Z; Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran.
  • Gleeson JG; Department of Medical Genetics, Kerman University of Medical Sciences, Kerman, Iran.
  • Hauser N; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gunel M; Centogene AG, Rostock, Germany.
  • Kayserili H; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Freiburg, Germany.
J Med Genet ; 56(5): 332-339, 2019 05.
Article en En | MEDLINE | ID: mdl-30487245
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Proteínas de Homeodominio / Trastornos del Neurodesarrollo / Mutación con Pérdida de Función Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Proteínas de Homeodominio / Trastornos del Neurodesarrollo / Mutación con Pérdida de Función Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article