Peters Plus syndrome: a recognizable clinical entity.
Turk J Pediatr
; 62(1): 136-140, 2020.
Article
em En
| MEDLINE
| ID: mdl-32253880
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades do Olho
/
Deformidades Congênitas dos Membros
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article