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Article

Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.

The Journal of craniofacial surgery - 1 Jan 2000

Shen Qin, Zhao Xiaojun, Ji Yongrong, Chai Peiwei

Abstract excerpt

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a relatively uncommon autosomal-dominant genetic disorder, primarily attributed to mutations in the forkhead box L2 (FOXL2) gene. Albeit the involvement of protein-coding regions of FOXL2 has been observed in the majority of BPES cases, whether deficiencies in regulatory elements lead to the pathogenesis remains poorly understood. Herein, an...

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Identifiers

PMID: 37938073
DOI: 10.1097/SCS.0000000000009801
PMCID: PMC10749674

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