Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report

BACKGROUND: FOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES type 2 is a simple association of inherited developmental defects of the eyeli...

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Detalles Bibliográficos
Autores principales: Grzechocińska, Barbara, Warzecha, Damian, Wypchło, Maria, Ploski, Rafal, Wielgoś, Mirosław
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670140/
https://www.ncbi.nlm.nih.gov/pubmed/31366388
http://dx.doi.org/10.1186/s12881-019-0865-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670140/
https://www.ncbi.nlm.nih.gov/pubmed/31366388
http://dx.doi.org/10.1186/s12881-019-0865-0

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