Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report

BACKGROUND: Peters plus syndrome (PPS) is a combination of congenital Peters anomaly and systemic abnormalities. It is inherited most commonly in an autosomal recessive pattern with homozygous B3GLCT mutations. Ocular findings consist predominantly anterior segment abnormalities without posterior se...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Ye Elaine, Ramirez, Dhariana Acon, Chang, Ta Chen, Berrocal, Audina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092513/
https://www.ncbi.nlm.nih.gov/pubmed/32204707
http://dx.doi.org/10.1186/s12886-020-01380-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092513/
https://www.ncbi.nlm.nih.gov/pubmed/32204707
http://dx.doi.org/10.1186/s12886-020-01380-6

Ejemplares similares