Literature DB >> 32202700

A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.

Jaime Vengoechea1, Janette DiMonda1.   

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Year:  2020        PMID: 32202700     DOI: 10.1002/ajmg.a.61556

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  2 in total

1.  Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.

Authors:  Margot Charlotte Riou; Muriel de La Dure-Molla; Stéphane Kerner; Sophie Rondeau; Adrien Legendre; Valerie Cormier-Daire; Benjamin P J Fournier
Journal:  Front Genet       Date:  2022-06-09       Impact factor: 4.772

2.  Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.

Authors:  Philip Broser; Ursula von Mengershausen; Katrin Heldt; Deborah Bartholdi; Dominique Braun; Christine Wolf; Min Ae Lee-Kirsch
Journal:  Pediatr Rheumatol Online J       Date:  2022-04-11       Impact factor: 3.054

  2 in total

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