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Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).
Monroe, Glen R; Kappen, Isabelle Fpm; Stokman, Marijn F; Terhal, Paulien A; van den Boogaard, Marie-José H; Savelberg, Sanne Mc; van der Veken, Lars T; van Es, Robert Jj; Lens, Susanne M; Hengeveld, Rutger C; Creton, Marijn A; Janssen, Nard G; Mink van der Molen, Aebele B; Ebbeling, Michelle B; Giles, Rachel H; Knoers, Nine V; van Haaften, Gijs.
Afiliación
  • Monroe GR; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Kappen IF; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Stokman MF; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Terhal PA; Department of Plastic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Savelberg SM; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van der Veken LT; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Es RJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Lens SM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Hengeveld RC; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Creton MA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Janssen NG; Department of Oral and Maxillofacial Surgery and Special Dental Care, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Mink van der Molen AB; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Ebbeling MB; Department of Molecular Cancer Research, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Giles RH; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Knoers NV; Department of Molecular Cancer Research, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Haaften G; Department of Oral and Maxillofacial Surgery and Special Dental Care, University Medical Center Utrecht, Utrecht, The Netherlands.
Eur J Hum Genet ; 24(12): 1752-1760, 2016 12.
Article en En | MEDLINE | ID: mdl-27530628
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndromes Orofaciodigitales / Codón sin Sentido / Quinasa 1 Relacionada con NIMA Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndromes Orofaciodigitales / Codón sin Sentido / Quinasa 1 Relacionada con NIMA Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article