Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants

Axenfeld‐Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes have never been systematically assessed. Here, 11 facia...

Descripción completa

Detalles Bibliográficos
Autores principales: Souzeau, Emmanuelle, Siggs, Owen M., Pasutto, Francesca, Knight, Lachlan S. W., Perez‐Jurado, Luis A., McGregor, Lesley, Le Blanc, Shannon, Barnett, Christopher P., Liebelt, Jan, Craig, Jamie E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839469/
https://www.ncbi.nlm.nih.gov/pubmed/33231930
http://dx.doi.org/10.1002/ajmg.a.61982

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839469/
https://www.ncbi.nlm.nih.gov/pubmed/33231930
http://dx.doi.org/10.1002/ajmg.a.61982

Ejemplares similares