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AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
We here report on a one-month-old female patient with typical features characteristic of Peters plus syndrome in whom a homozygous pathogenic mutation in the B3GLCT gene was detected.
📌 3 Key Takeaways
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Objective & Hypothesis: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.
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Key Findings & Data:Homozygous variants in the B3GLCT gene were identified to underlie this disorder.
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Conclusion & Impact:We here report on a one-month-old female patient with typical features characteristic of Peters plus syndrome in whom a homozygous pathogenic mutation in the B3GLCT gene was detected.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Özet
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 one-month-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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Cite This Article
DEMİR, G. Ü., LAFCI, N. G., DOĞAN, Ö. A., KİPER, P. Ö. Ş., UTİNE, G. E. (2020). Peters Plus syndrome: a recognizable clinical entity. Turkish Journal of Pediatrics, Cilt: 62 - Sayı: 1, 136–140. https://ajindex.com/articles/411982