1.
Clin Genet
; 63(2): 117-20, 2003 Feb.
Article
in English
| MEDLINE
| ID: mdl-12630957
ABSTRACT
The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is presented. This study detected two novel FOXL2 mutations (missence and nonsens mutations) and confirmed the recurrence of a previously described duplication. Magnetic Resonance Imaging (MRI) of the orbit, in one family, showed absence or hypotrophy of the eyelid superior levator muscle suggesting a possible role of FOXL2 in the development of this extra-ocular muscle.
Subject(s)
Blepharophimosis/genetics , Blepharoptosis/genetics , DNA-Binding Proteins/genetics , Facial Muscles/pathology , Transcription Factors/genetics , Adult , Blepharophimosis/pathology , Blepharoptosis/pathology , Child, Preschool , DNA Mutational Analysis , Female , Forkhead Box Protein L2 , Forkhead Transcription Factors , Humans , Infant , Magnetic Resonance Imaging , Male , Pedigree
2.
Bull Soc Ophtalmol Fr
; 88(10): 1145-6, 1149-50, 1988 Oct.
Article
in French
| MEDLINE
| ID: mdl-3075517
Subject(s)
Conjunctival Neoplasms , Eyelid Neoplasms , Xeroderma Pigmentosum , Adult , Child , Eye Neoplasms , Female , Humans , Male , Skin Neoplasms
3.
Bull Soc Ophtalmol Fr
; 87(7-8): 943-6, 949, 1987.
Article
in French
| MEDLINE
| ID: mdl-3427762
Subject(s)
Choroid , Ciliary Body , Exudates and Transudates , Female , Humans , Male , Syndrome , Uveal Diseases/complications , Uveal Diseases/diagnosis , Uveal Diseases/etiology
4.
Bull Soc Ophtalmol Fr
; 82(8-9): 1129-32, 1982.
Article
in French
| MEDLINE
| ID: mdl-7165948
