Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report

INTRODUCTION: PITX3 has been reported to be associated with congenital cataracts, anterior segment mesenchymal dysgenesis, Peters’ anomaly, and microphthalmia. In this case, an infant with unilateral buphthalmos, corneal staphyloma and corneal fistula carrying a variant in PITX3 was reported. CASE D...

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Detalles Bibliográficos
Autores principales: Zhou, Lin, Xu, Zhike, Wu, Qianying, Wei, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509590/
https://www.ncbi.nlm.nih.gov/pubmed/36153513
http://dx.doi.org/10.1186/s12886-022-02573-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509590/
https://www.ncbi.nlm.nih.gov/pubmed/36153513
http://dx.doi.org/10.1186/s12886-022-02573-x

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