Y Zhang, WW Kao, E Pelosi… - Journal of cell …, 2011 - ncbi.nlm.nih.gov ... mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenitalblepharophimosis. ... haploinsufficiency of FOXL2 in humans, which results in type II BPES (blepharophimosis, ptosis and epicanthus inversus syndrome). ... All 2 versions
CE Decock, AD Shah, C Delaey… - Archives of …, 2011 - Am Med Assoc ... ABSTRACT Objective To study the efficacy and clinical and anatomical results of supramaximal levator resection in patients with blepharophimosis-ptosis–epicanthus inversus syndrome (BPES) with severe congenital ptosis with poor levator function (LF). ...
P De Jonghe, MJ Dixon, KM Georgas… - Human …, 2011 - espace.library.uq.edu.au ... 3q23. Thr ee congenital disorders have been localised to this region: blepharophimosis- ptosis-epicanthus inversus syndrome (BPES), Charcot-Maric-Tooth neuropathy type IIB (CMT2B) and Mobius syndrome type 2 (MBS2). We ... Cached
EJ Wladis… - Evaluation and Management of Blepharoptosis, 2011 - Springer ... In cases of myogenic congenital ptosis, spe- cial consideration should be given to the patient's external appearance, as it may yield clues as to a possible underlying cause [2]. Specifically, the blepharophimosissyndrome is characterized by severe ptosis, telecanthus ... Related articles - All 2 versions
BC Lim, WY Park, EJ Seo, KJ Kim… - Journal of Child …, 2011 - jcn.sagepub.com ... malformation and global development delay were present. Blepharophimosis, ptosis, epicanthus inversus syndrome is a rare but well-characterized congenital anomaly of the palpebral fissure. FOXL2 is the only known causative gene ... Related articles - All 3 versions
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