Peters Plus syndrome: a recognizable clinical entity
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 dis...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2020-02-01
|
| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/422 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850237225497788416 |
|---|---|
| author | Gizem Ürel Demir Naz Güleray Lafcı Özlem Akgün Doğan Pelin Özlem Şimşek-Kiper Gülen Eda Utine |
| author_facet | Gizem Ürel Demir Naz Güleray Lafcı Özlem Akgün Doğan Pelin Özlem Şimşek-Kiper Gülen Eda Utine |
| author_sort | Gizem Ürel Demir |
| collection | DOAJ |
| description |
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 with typical features characteristic of Peters plus syndrome in whom a homozygous pathogenic mutation in the B3GLCT gene was detected.
|
| format | Article |
| id | doaj-art-dbdc980081ee485c8882beaa82c9e992 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2020-02-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-dbdc980081ee485c8882beaa82c9e9922025-08-20T02:01:47ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212020-02-0162110.24953/turkjped.2020.01.020Peters Plus syndrome: a recognizable clinical entityGizem Ürel Demir0Naz Güleray Lafcı1Özlem Akgün Doğan2Pelin Özlem Şimşek-Kiper3Gülen Eda Utine4Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. 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 with typical features characteristic of Peters plus syndrome in whom a homozygous pathogenic mutation in the B3GLCT gene was detected. https://turkjpediatr.org/article/view/422B3GLCTPeters anomalyPeters plus syndrome |
| spellingShingle | Gizem Ürel Demir Naz Güleray Lafcı Özlem Akgün Doğan Pelin Özlem Şimşek-Kiper Gülen Eda Utine Peters Plus syndrome: a recognizable clinical entity The Turkish Journal of Pediatrics B3GLCT Peters anomaly Peters plus syndrome |
| title | Peters Plus syndrome: a recognizable clinical entity |
| title_full | Peters Plus syndrome: a recognizable clinical entity |
| title_fullStr | Peters Plus syndrome: a recognizable clinical entity |
| title_full_unstemmed | Peters Plus syndrome: a recognizable clinical entity |
| title_short | Peters Plus syndrome: a recognizable clinical entity |
| title_sort | peters plus syndrome a recognizable clinical entity |
| topic | B3GLCT Peters anomaly Peters plus syndrome |
| url | https://turkjpediatr.org/article/view/422 |
| work_keys_str_mv | AT gizemureldemir petersplussyndromearecognizableclinicalentity AT nazguleraylafcı petersplussyndromearecognizableclinicalentity AT ozlemakgundogan petersplussyndromearecognizableclinicalentity AT pelinozlemsimsekkiper petersplussyndromearecognizableclinicalentity AT gulenedautine petersplussyndromearecognizableclinicalentity |