Analysis ofFOXL2detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome-Reference-Cited by-同舟云学术

Analysis ofFOXL2detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome

Published:2016-07-01 Issue:9 Volume:44 Page:757-762
ISSN:1442-6404
Container-title:Clinical & Experimental Ophthalmology
language:en
Short-container-title:Clinical & Experimental Ophthalmology

Author:

Krepelova Anna¹,Simandlova Martina¹,Vlckova Marketa¹,Kuthan Pavel²,Vincent Andrea L³⁴,Liskova Petra²⁵^ORCID

Affiliation:

1. Department of Biology and Medical Genetics, Second Faculty of Medicine; Charles University in Prague and University Hospital Motol; Prague Czech Republic

2. Department of Ophthalmology, First Faculty of Medicine; Charles University in Prague and General University Hospital in Prague; Prague Czech Republic

3. Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences; University of Auckland; Auckland New Zealand

4. Eye Department, Greenlane Clinical Centre; Auckland District Health Board; Auckland New Zealand

5. Institute of Inherited Metabolic Disorders, First Faculty of Medicine; Charles University in Prague and General University Hospital in Prague; Prague Czech Republic

Publisher

Wiley

Subject

Ophthalmology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ceo.12783/fullpdf

Reference22 articles.

1. Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction;De Baere;Pediatr Endocrinol Rev,2005

2. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome);Oley;J Med Genet,1988

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

4. FOXL2 impairment in human disease;Verdin;Horm Res Paediatr,2012

5. FOXL2 mutations and genomic rearrangements in BPES;Beysen;Hum Mutat,2009

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