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Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
Terhal, Paulien A; Vlaar, Judith M; Middelkamp, Sjors; Nievelstein, Rutger A J; Nikkels, Peter G J; Ross, Jamila; Créton, Marijn; Bos, Jeroen W; Voskuil-Kerkhof, Elsbeth S M; Cuppen, Edwin; Knoers, Nine; van Gassen, Koen L I.
Afiliación
  • Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.
  • Vlaar JM; Center for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.
  • Middelkamp S; Center for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.
  • Nievelstein RAJ; Department of Radiology, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.
  • Nikkels PGJ; Department of Pathology, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.
  • Ross J; Department of Oral and Maxillofacial Surgery and Special Dental Care, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.
  • Créton M; Department of Oral and Maxillofacial Surgery and Special Dental Care, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.
  • Bos JW; Department of Neurology, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.
  • Voskuil-Kerkhof ESM; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.
  • Cuppen E; Center for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.
  • Knoers N; Department of Genetics, University Medical Center Groningen, Groningen, 9700 RB, The Netherlands.
  • van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands. K.L.I.vanGassen-2@umcutrecht.nl.
Eur J Hum Genet ; 28(1): 31-39, 2020 01.
Article en En | MEDLINE | ID: mdl-31089205
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Texto completo: 1 Colección: 01-internacional Asunto principal: Osteocondrodisplasias / ARN Polimerasa III / Anodoncia Límite: Adult / Female / Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Asunto principal: Osteocondrodisplasias / ARN Polimerasa III / Anodoncia Límite: Adult / Female / Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos