Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle-Reference-Cited by-同舟云学术

Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle

Published:2003-02 Issue:2 Volume:63 Page:117-120
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Dollfus H,Stoetzel C,Riehm S,Lahlou Boukoffa W,Bediard Boulaneb F,Quillet R,Abu-Eid M,Speeg-Schatz C,Francfort JJ,Flament J,Veillon F,Perrin-Schmitt F

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2003.00011.x/fullpdf

Reference7 articles.

1. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types;Zlotogora;Am J Hum Genet,1983

2. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome;Crisponi;Nature Genet,2001

3. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation;De Baere;Hum Mol Genet,2001

4. Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports homogeneity of BPES at 3q22 locus;Dollfus;J Med Genet,2001

5. Francfort JJ Contribution à l'étude du blépharophimosis familial compliqué Thèse pour le doctorat en médecine. 1963

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1. Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome;International Journal of Ophthalmology;2021-04-18

2. Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome;Human Molecular Genetics;2014-11-21

3. An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations inKAT6B;American Journal of Medical Genetics Part A;2014-01-23

4. Insights Into Levator Muscle Dysfunction in a Cohort of Patients With Molecularly Confirmed Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Using High-Resolution Imaging, Anatomic Examination, and Histopathologic Examination;Archives of Ophthalmology;2011-12-01

5. Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis;Journal of Cell Science;2011-08-01