A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease characterized by a narrowed horizontal palpehral aperture, ptosis, epicanthus inversus and telecanthus with or without premature ovarian failure. Mutations in the forkhead transcription factor...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Hum Genome Var
Hauptverfasser: Tan, Hu, Yang, Pu, Li, Haoxian, Pan, Qian, Liang, Desheng, Wu, Lingqian
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2015
Schlagworte:
Data Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785579/
https://ncbi.nlm.nih.gov/pubmed/27081523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.8
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