首页> American journal of medical genetics. Part A> Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

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第一作者： Ceris I,Owen

第一单位： Medical Research Council, London Institute for Medical Sciences, Hammersmith Hospital, London, UK.

作者： Ceris I,Owen ^[1] ; Ramsay,Bowden ^[2] ; Michael J,Parker ^[3] ; Jo,Patterson ^[3] ; Joan,Patterson ^[2] ; Sue,Price ^[4] ; Ajoy,Sarkar ^[5] ; Bruce,Castle ^[6] ; Charulatha,Deshpande ^[7] ; Miranda,Splitt ^[8] ; Neeti,Ghali ^[9] ; John,Dean ^[10] ; Andrew J,Green ^[11] ; Charlene,Crosby ^[12] ; Deciphering Developmental Disorders Study ^[13] ; Katrina,Tatton-Brown ^[14]

作者单位： Medical Research Council, London Institute for Medical Sciences, Hammersmith Hospital, London, UK. ^[1] East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. ^[2] Sheffield Children's NHS Foundation Trust, Sheffield Clinical Genetics Service, Sheffield, South Yorkshire, UK. ^[3] Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK. ^[4] Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK. ^[5] Peninsula Genetics Service, Royal Devon and Exeter Hospitals NHS Trust, Exeter, UK. ^[6] South East Thames Regional Genetics Unit, Guys and St Thomas NHS Trust, London, UK. ^[7] Northern Genetics Service, Newcastle Upon Tyne Hospital NHS Foundation Trust, Newcastle, UK. ^[8] North West Thames Regional Genetics Service, North West London Healthcare NHS Trust, Harrow, UK. ^[9] Department of Clinical Genetics, NHS Grampian, Aberdeen, UK. ^[10] National Centre for Medical Genetics, Our Lady's Hospital, Dublin, Republic of Ireland. ^[11] South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK. ^[12] Deciphering Developmental Disorders Study, Wellcome Trust Sanger Institute, Cambridge, UK. ^[13] South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.;St George's University of London, London, UK. ^[14]

关键词 CSNK2A1 DDD study Okur-Chung intellectual disability protein kinase CK2