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Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature
BACKGROUND: The newborn malformation of primary lymphatic dysplasia (PLD), developed primarily due to PIEZO1 gene autosomal recessive mutation, is known to hinder with the lymphatic system action, causing chyle or lymph effusion into the peritoneal cavity or pleura. CASE PRESENTATION: A 4-years-old...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10238584/ https://www.ncbi.nlm.nih.gov/pubmed/37274623 http://dx.doi.org/10.1016/j.rmcr.2023.101872 |