A novel missense mutation of FOXC1 in an Axenfeld–Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review

BACKGROUND: Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant hereditary disease characterized primarily by maldevelopment of the anterior segment of both eyes, accompanied by developmental glaucoma, and other congenital anomalies. FOXC1 and PITX2 genes play important roles in the developm...

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Detalles Bibliográficos
Autores principales: Li, Kaiming, Tang, Min, Xu, Manhua, Yu, Yinggui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8555356/
https://www.ncbi.nlm.nih.gov/pubmed/34715865
http://dx.doi.org/10.1186/s12920-021-01103-w

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