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Peters Plus syndrome: a recognizable clinical entity

Peters Plus syndrome: a recognizable clinical entity

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_dbdc980081ee485c8882beaa82c9e992

Peters Plus syndrome: a recognizable clinical entity

About this item

Full title

Peters Plus syndrome: a recognizable clinical entity

Publisher

Turkey: Hacettepe University Faculty of Medicine

Journal title

Turkish journal of pediatrics, 2020-01, Vol.62 (1), p.136-140

Language

English

Formats

Publication information

Publisher

Turkey: Hacettepe University Faculty of Medicine

More information

Scope and Contents

Contents

Peters plus syndrome is a rare genetic condition wherein multiple systemic involvement with distinctive facial features are manifested, whilst the hallmark is Peters anomaly, occuring from anterior segment dysgenesis. Homozygous variants in the B3GLCT gene were identified to underlie this disorder. We here report on a onemonth- old female patient w...

Alternative Titles

Full title

Peters Plus syndrome: a recognizable clinical entity

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_dbdc980081ee485c8882beaa82c9e992

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_dbdc980081ee485c8882beaa82c9e992

Other Identifiers

ISSN

0041-4301

E-ISSN

2791-6421

DOI

10.24953/turkjped.2020.01.020

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