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http://purl.uniprot.org/citations/32204707http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/32204707http://www.w3.org/2000/01/rdf-schema#comment"

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 segment involvement.

Case presentation

In this presentation, we report a case of PPS with homozygous pathogenic variant in B3GLCT who presented with classic anterior segment findings, systemic abnormalities, as well as atypical bilateral chorioretinal atrophy. The chorioretinal findings were characterized with spectral-domain optical coherence tomography.

Conclusions

Our report expands the phenotypic descriptions of PPS by characterizing posterior segment findings."xsd:string
http://purl.uniprot.org/citations/32204707http://purl.org/dc/terms/identifier"doi:10.1186/s12886-020-01380-6"xsd:string
http://purl.uniprot.org/citations/32204707http://purl.uniprot.org/core/author"Chang T.C."xsd:string
http://purl.uniprot.org/citations/32204707http://purl.uniprot.org/core/author"Wang Y.E."xsd:string
http://purl.uniprot.org/citations/32204707http://purl.uniprot.org/core/author"Berrocal A."xsd:string
http://purl.uniprot.org/citations/32204707http://purl.uniprot.org/core/author"Ramirez D.A."xsd:string
http://purl.uniprot.org/citations/32204707http://purl.uniprot.org/core/date"2020"xsd:gYear
http://purl.uniprot.org/citations/32204707http://purl.uniprot.org/core/name"BMC Ophthalmol"xsd:string
http://purl.uniprot.org/citations/32204707http://purl.uniprot.org/core/pages"118"xsd:string
http://purl.uniprot.org/citations/32204707http://purl.uniprot.org/core/title"Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report."xsd:string
http://purl.uniprot.org/citations/32204707http://purl.uniprot.org/core/volume"20"xsd:string
http://purl.uniprot.org/citations/32204707http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/32204707
http://purl.uniprot.org/citations/32204707http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/32204707
http://purl.uniprot.org/uniprot/#_Q6Y288-mappedCitation-32204707http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32204707
http://purl.uniprot.org/uniprot/Q6Y288http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/32204707