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Corrigendum: Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome.
Front Genet
April 2024
The Department of Facial and Neck Plastic Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
[This corrects the article DOI: 10.3389/fgene.2024.
View Article and Find Full Text PDFLambda-double-fixation for medial epicanthoplasty in Blepharophimosis - Ptosis - Epicanthus Inversus Syndrome.
Orbit
March 2024
Ophthalmic Plastic Surgery Department, Quirón Teknon Hospital, Barcelona, Spain.
Purpose: This study aims to describe a novel approach to medial epicanthoplasty in patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and evaluate the surgical outcome of this technique.
Methods: A retrospective, noncomparative, interventional case series involving 22 BPES patients who underwent medial epicanthoplasty using the Lambda-Double-Fixation technique (LDFT) performed by a single surgeon. Pre- and postoperative measurements of inner intercanthal distance (DIC) and horizontal palpebral fissure (HPFL) were recorded.
Novel variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome.
Front Genet
February 2024
The Department of Facial and Neck Plastic Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare inherited disorder. This study was aimed to identify and functionally validate variants in two Chinese families with BPES. The proband and his family members were subjected to whole-exome sequencing to identify disease-associated variants.
View Article and Find Full Text PDFDeletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.
J Craniofac Surg
February 2024
Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.
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 autosomal-dominant BPES type II family was included.
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