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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Macken, William L; Godwin, Annie; Wheway, Gabrielle; Stals, Karen; Nazlamova, Liliya; Ellard, Sian; Alfares, Ahmed; Aloraini, Taghrid; AlSubaie, Lamia; Alfadhel, Majid; Alajaji, Sulaiman; Wai, Htoo A; Self, Jay; Douglas, Andrew G L; Kao, Alexander P; Guille, Matthew; Baralle, Diana.
  • Macken WL; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton, SO165YA, UK.
  • Godwin A; European Xenopus Resource Centre, University of Portsmouth School of Biological Sciences, King Henry Building, King Henry I Street, Portsmouth, PO1 2DY, UK.
  • Wheway G; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK.
  • Stals K; Exeter Genomics Laboratory, Level 3 RILD building, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Nazlamova L; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK.
  • Ellard S; Exeter Genomics Laboratory, Level 3 RILD building, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Alfares A; University of Exeter Medical School, RILD building, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Aloraini T; Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.
  • AlSubaie L; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Alfadhel M; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Alajaji S; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Wai HA; King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Self J; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Douglas AGL; King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Kao AP; King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Guille M; King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Baralle D; Division of Allergy and Clinical Immunology, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Genome Med ; 13(1): 34, 2021 02 25.
Article en En | MEDLINE | ID: mdl-33632302
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Catarata / Proteína Coatómero / Alelos / Discapacidad Intelectual / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Catarata / Proteína Coatómero / Alelos / Discapacidad Intelectual / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article