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Peters Plus syndrome: a recognizable clinical entity.
Demir, Gizem Ürel; Lafci, Naz Güleray; Dogan, Özlem Akgün; Simsek-Kiper, Pelin Özlem; Utine, Gülen Eda.
Afiliação
  • Demir GÜ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Lafci NG; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Dogan ÖA; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Simsek-Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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.
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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

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