An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by appearance of premature aging, including the skin, bones, heart, and blood vessels caused by LMNA mutation. In this study, the patient presented with congenital micrognathia and progressively aggravated upper a...

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Detalles Bibliográficos
Autores principales: Xu, Duojiao, Guo, Yujiao, Qi, Zhan, Hao, Chanjuan, Yu, Guoxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616127/
https://www.ncbi.nlm.nih.gov/pubmed/37916118
http://dx.doi.org/10.1016/j.heliyon.2023.e20857

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