Blepharophimosis-ptosis-epicanthus inversus syndrome

Author:

Graziadio Carla,de Moraes Felipe Nora,Rosa Rafael Fabiano Machado,Zen Paulo Ricardo Gazzola,Travi Giovanni Marcos,Waldman Carolina,Medina Cristina Touguinha Neves,De Baere Elfride,Paskulin Giorgio Adriano

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Reference8 articles.

1. Online Mendelian Inheritance in Man, OMIM (TM) McKusick-Nathans Institute for Genetic Medicine, John Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Baltimore, MD) 2006 http://www.ncbi.nlm.nih.gov/omim

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

3. FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation;De Baere;Am. J. Hum. Genet.,2003

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

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

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1. Fertility preservation;Handbook of Current and Novel Protocols for the Treatment of Infertility;2024

2. Genetic Abnormalities of the Anterior Segment, Eyelids, and External Ocular Adnexa;Ophthalmic Genetic Diseases;2019

3. One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique;Journal of Plastic Surgery and Hand Surgery;2013-08-23

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