Axenfeld-Rieger syndrome: more than meets the eye.

Journal of medical genetics（2023）

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摘要

Since clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, -related ARS or -related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy.

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关键词

congenital, hereditary, and neonatal diseases and abnormalities,eye diseases,genetics,genetics, medical

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