Concepedia

Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus

Oscar F. Chacón‐Camacho, Acatzin Salgado-Medina, Nayeli Alcaraz-Lares, Daniel López-Moreno, Tania Barragán-Arévalo, Ángel Nava-Castañeda, Genaro Rodríguez‐Uribe, Esther Lieberman, Lourdes Rodríguez-Cabrera, Ariadna González‐del Angel,

Gene · 2019 · 10 citations · 22 references

DOI

Concepts

References

22

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update

Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations

, , +15

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Laura Crisponi, Manila Deiana, Angela Loi et al. · Nature Genetics · 2001 · 977 citations

, , +5

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Human Molecular Genetics · 2001 · 280 citations · Full text

, , +16

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

Diane Beysen, Christine Oley, Birgit Lorenz et al. · The American Journal of Human Genetics · 2003 · 243 citations · Full text

, , +14