The clinical and genetic findings in a Chinese family with Axenfeld-Rieger syndrome

OBJECIVE: To describe the clinical and genetic findings of an Axenfeld-Rieger syndrome (ARS) family with a new PITX2 splicing mutation. METHODS: A Chinese ARS family with five affected individuals was recruited. Exome sequencing was performed on the proband and the variant (C.253-9C > A) in PITX2...

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Detalles Bibliográficos
Autores principales: Cheng, Lingyan, Zhang, Yinong, Ding, Yuzhi, Yuan, Zhilan, Han, Xiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9813731/
https://www.ncbi.nlm.nih.gov/pubmed/36619412
http://dx.doi.org/10.1016/j.heliyon.2022.e12543

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