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Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Wallmeier, Julia; Bracht, Diana; Alsaif, Hessa S; Dougherty, Gerard W; Olbrich, Heike; Cindric, Sandra; Dzietko, Mark; Heyer, Christoph; Teig, Norbert; Thiels, Charlotte; Faqeih, Eissa; Al-Hashim, Aqeela; Khan, Sameena; Mogarri, Ibrahim; Almannai, Mohammed; Al Otaibi, Wadha; Alkuraya, Fowzan S; Koerner-Rettberg, Cordula; Omran, Heymut.
Afiliación
  • Wallmeier J; Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany.
  • Bracht D; Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany.
  • Alsaif HS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Dougherty GW; Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany.
  • Olbrich H; Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany.
  • Cindric S; Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany.
  • Dzietko M; Department for Pediatrics I, University Clinic Essen, Hufelandstrasse 55, 45147 Essen, Germany.
  • Heyer C; Institute of Radiology and Pediatric Radiology, University Hospital, Ruhr University Bochum, 44791 Bochum, Germany.
  • Teig N; Department of Neonatology and Pediatric Intensive Care, University Children's Hospital, Ruhr University Bochum, 44791 Bochum, Germany.
  • Thiels C; Department of Neuropediatrics, University Children's Hospital, Ruhr University Bochum, 44791 Bochum, Germany.
  • Faqeih E; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Al-Hashim A; National Neuroscience Institute, King Fahad Medical City, Riyadh 11211, Saudi Arabia.
  • Khan S; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Mogarri I; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Almannai M; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Al Otaibi W; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11211, Saudi Arabia.
  • Koerner-Rettberg C; Children's Hospital Marienhospital Wesel, Pastor-Janssen-Str. 8-38, 46483 Wesel, Germany; Department of Pediatric Pneumology, University Children's Hospital, Ruhr University Bochum, 44791 Bochum, Germany.
  • Omran H; Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany. Electronic address: heymut.omran@ukmuenster.de.
Am J Hum Genet ; 108(7): 1318-1329, 2021 07 01.
Article en En | MEDLINE | ID: mdl-34077761
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Depuración Mucociliar / Mucosa Respiratoria / Lisencefalia / Proteína Tumoral p73 Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Depuración Mucociliar / Mucosa Respiratoria / Lisencefalia / Proteína Tumoral p73 Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos