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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Twigg, Stephen R F; Hufnagel, Robert B; Miller, Kerry A; Zhou, Yan; McGowan, Simon J; Taylor, John; Craft, Jude; Taylor, Jenny C; Santoro, Stephanie L; Huang, Taosheng; Hopkin, Robert J; Brady, Angela F; Clayton-Smith, Jill; Clericuzio, Carol L; Grange, Dorothy K; Groesser, Leopold; Hafner, Christian; Horn, Denise; Temple, I Karen; Dobyns, William B; Curry, Cynthia J; Jones, Marilyn C; Wilkie, Andrew O M.
Afiliación
  • Twigg SRF; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.
  • Hufnagel RB; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
  • Miller KA; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.
  • Zhou Y; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.
  • McGowan SJ; Computational Biology Research Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.
  • Taylor J; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK; Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford OX3 7LE, UK.
  • Craft J; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK.
  • Taylor JC; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK; Oxford Biomedical Research Centre, National Institute for Health Research, Oxford OX3 7BN, UK.
  • Santoro SL; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
  • Huang T; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
  • Hopkin RJ; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
  • Brady AF; North West Thames Regional Genetics Service, Kennedy-Galton Centre, Northwick Park Hospital, Harrow HA1 3UJ, UK.
  • Clayton-Smith J; Manchester Centre for Genomic Medicine, St. Mary's Hospital, University of Manchester, Manchester M13 9WL, UK.
  • Clericuzio CL; Division of Genetics/Dysmorphology, Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA.
  • Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Groesser L; Department of Dermatology, University of Regensburg, 93053 Regensburg, Germany.
  • Hafner C; Department of Dermatology, University of Regensburg, 93053 Regensburg, Germany.
  • Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Temple IK; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.
  • Dobyns WB; Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Curry CJ; Genetic Medicine, University of California, San Francisco, Fresno, CA 93701, USA.
  • Jones MC; Department of Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, CA 92123, USA.
  • Wilkie AOM; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK. Electronic address: andrew.wilkie@imm.ox.ac.uk.
Am J Hum Genet ; 98(6): 1256-1265, 2016 06 02.
Article en En | MEDLINE | ID: mdl-27236920
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Cutáneas / Sindactilia / Anomalías Craneofaciales / Receptor Smoothened / Intestinos / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Cutáneas / Sindactilia / Anomalías Craneofaciales / Receptor Smoothened / Intestinos / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido