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Updated: Jul 15, 2025

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在双性CYP1B1致病变体中,先天性角膜的可变表型

Elena Franco1,2,3, Meghal Gagrani1, Hannah L Scanga1

  • 1Division of Pediatric Ophthalmology, Strabismus, and Adult Motility, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.

Cornea
|October 3, 2023
PubMed
概括

与CYP1B1基因变异相关的先天性角膜不透明性呈现出不同的表型,包括彼得斯异常和CYP1B1细胞质病变. 了解这种变异性对于临床意识和管理至关重要.

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