A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings

AIM: To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome (ARS) and characterize the molecular defect in PITX2 in the family. METHODS: Patients presented with typical ARS from a Chinese family were investigated. We performed genome-wide linkage scan and exome sequencing...

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Bibliografiska uppgifter
I publikationen:Int J Ophthalmol
Huvudupphovsmän: Sun, Da-Peng, Dai, Yun-Hai, Pan, Xiao-Jing, Shan, Tao, Wang, Dian-Qiang, Chen, Peng
Materialtyp: Artigo
Språk:Inglês
Publicerad: International Journal of Ophthalmology Press 2017
Ämnen:
Basic Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5515146/
https://ncbi.nlm.nih.gov/pubmed/28730073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2017.06.04
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