Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family

INTRODUCTION: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic disease with diverse ocular malformations. This study aimed to investigate the disease-causing gene in members of a BPES pedigree presenting with the rare features of anisometropia, unilateral pathologi...

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Detalles Bibliográficos
Autores principales: Lin, Zhi-Bo, Chen, Zhen-Ji, Yang, Hui, Ding, Xing-Ru, Li, Jin, Pan, An-Peng, Sun, Hai-Sen, Yu, A.-Yong, Chen, Shi-Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629009/
https://www.ncbi.nlm.nih.gov/pubmed/37932670
http://dx.doi.org/10.1186/s12886-023-03189-5

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