Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

BACKGROUND: The Oculo‐Auriculo‐Vertebral Spectrum (OAVS) or Goldenhar Syndrome is an embryonic developmental disorder characterized by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical heterogeneity of this spectrum and its incomplete penetrance limite...

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Detalles Bibliográficos
Autores principales: Tingaud‐Sequeira, Angèle, Trimouille, Aurélien, Marlin, Sandrine, Lopez, Estelle, Berenguer, Marie, Gherbi, Souad, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549578/
https://www.ncbi.nlm.nih.gov/pubmed/32738032
http://dx.doi.org/10.1002/mgg3.1375

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549578/
https://www.ncbi.nlm.nih.gov/pubmed/32738032
http://dx.doi.org/10.1002/mgg3.1375

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