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3 articles related to "Singleton Merten Syndrome"

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Articles

Mini Review

Published on 12 Sep 2017

RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome

in Genetics of Common and Rare Diseases

Changming Lu
Mary MacDougall

Frontiers in Genetics

doi 10.3389/fgene.2017.00118

11,693 views
31 citations

Case Report

Published on 13 May 2021

Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1

in Genetics of Common and Rare Diseases

Wei Xiao
Jie Feng
Hongyu Long
Bo Xiao
Zhaohui H. Luo

Frontiers in Genetics

doi 10.3389/fgene.2021.660953

7,089 views
14 citations

Systematic Review

Published on 09 Jun 2022

Oral Phenotype of Singleton–Merten Syndrome: A Systematic Review Illustrated With a Case Report

in Genetics of Common and Rare Diseases

Margot Charlotte Riou
Muriel de La Dure-Molla
Stéphane Kerner
Sophie Rondeau
Adrien Legendre
Valerie Cormier-Daire
Benjamin P. J. Fournier

Frontiers in Genetics

doi 10.3389/fgene.2022.875490

4,482 views
5 citations