Cargando…
Oral Phenotype of Singleton–Merten Syndrome: A Systematic Review Illustrated With a Case Report
Background: Singleton–Merten syndrome type 1 (SGMRT1) is a rare autosomal dominant disorder caused by IFIH1 variations with blood vessel calcifications, teeth anomalies, and bone defects. Aim: We aimed to summarize the oral findings in SGMRT1 through a systematic review of the literature and to desc...
Autores principales: | Riou, Margot Charlotte, de La Dure-Molla, Muriel, Kerner, Stéphane, Rondeau, Sophie, Legendre, Adrien, Cormier-Daire, Valerie, Fournier, Benjamin P. J. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218817/ https://www.ncbi.nlm.nih.gov/pubmed/35754802 http://dx.doi.org/10.3389/fgene.2022.875490 |
Ejemplares similares
-
RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome
por: Lu, Changming, et al.
Publicado: (2017) -
DDX58 and Classic Singleton-Merten Syndrome
por: Ferreira, Carlos R., et al.
Publicado: (2018) -
Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1
por: Xiao, Wei, et al.
Publicado: (2021) -
Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report
por: Broser, Philip, et al.
Publicado: (2022) -
Unified mechanisms for self-RNA recognition by RIG-I Singleton-Merten syndrome variants
por: Lässig, Charlotte, et al.
Publicado: (2018)