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The prevalence and phenotypic range associated with biallelic PKDCC variants.
Pagnamenta, Alistair T; Belles, Rebecca S; Salbert, Bonnie Anne; Wentzensen, Ingrid M; Guillen Sacoto, Maria J; Santos, Francis Jeshira Reynoso; Caffo, Alesky; Ferla, Matteo; Banos-Pinero, Benito; Pawliczak, Karolina; Makvand, Mina; Najmabadi, Hossein; Maroofian, Reza; Lester, Tracy; Yanez-Felix, Ana Lucia; Villarroel-Cortes, Camilo E; Xia, Fan; Al Fayez, Khowla; Al Hashem, Amal; Shears, Deborah; Irving, Melita; Offiah, Amaka C; Kariminejad, Ariana; Taylor, Jenny C.
Afiliación
  • Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Belles RS; Geisinger Health System, Danville, Pennsylvania, USA.
  • Salbert BA; Geisinger Health System, Danville, Pennsylvania, USA.
  • Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA.
  • Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA.
  • Santos FJR; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • Caffo A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Ferla M; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • Banos-Pinero B; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Pawliczak K; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Makvand M; South East Genomic Laboratory Hub, Guy's Hospital, London, UK.
  • Najmabadi H; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
  • Maroofian R; Genetics Research Center, University of Social Welfare & Rehabilitation Science, Tehran, Iran.
  • Yanez-Felix AL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Villarroel-Cortes CE; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
  • Xia F; Human Genetics Department, National Pediatrics Institute, Mexico City, Mexico.
  • Al Fayez K; Human Genetics Department, National Pediatrics Institute, Mexico City, Mexico.
  • Al Hashem A; Baylor Genetics, Houston, Texas, USA.
  • Shears D; Department of Pediatrics, Division of Clinical Genetic and Metabolic Medicine, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.
  • Irving M; Department of Pediatrics, Division of Clinical Genetic and Metabolic Medicine, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.
  • Offiah AC; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Kariminejad A; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Taylor JC; Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.
Clin Genet ; 104(1): 121-126, 2023 07.
Article en En | MEDLINE | ID: mdl-36896672
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Enanismo Tipo de estudio: Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Enanismo Tipo de estudio: Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido