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

Am J Med Genet A. 2020 Jun;182(6):1535-1536. doi: 10.1002/ajmg.a.61556. Epub 2020 Mar 23.

Authors

Jaime Vengoechea¹, Janette DiMonda¹

Affiliation

¹ Department of Human Genetics, Emory University, Atlanta, Georgia, USA.

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

No abstract available

Publication types

Letter

MeSH terms

Adolescent
Adult
Aortic Diseases / complications
Aortic Diseases / genetics*
Aortic Diseases / pathology
Dental Enamel Hypoplasia / complications
Dental Enamel Hypoplasia / genetics*
Dental Enamel Hypoplasia / pathology
Female
Heart Diseases / genetics*
Heart Diseases / physiopathology
Humans
Interferon-Induced Helicase, IFIH1 / genetics*
Metacarpus / abnormalities*
Metacarpus / pathology
Muscular Diseases / complications
Muscular Diseases / genetics*
Muscular Diseases / pathology
Mutation / genetics
Odontodysplasia / complications
Odontodysplasia / genetics*
Odontodysplasia / pathology
Osteoporosis / complications
Osteoporosis / genetics*
Osteoporosis / pathology
Vascular Calcification / complications
Vascular Calcification / genetics*
Vascular Calcification / pathology
Young Adult

Substances

IFIH1 protein, human
Interferon-Induced Helicase, IFIH1

Supplementary concepts

Singleton Merten syndrome