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A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.
- Source :
-
The British journal of dermatology [Br J Dermatol] 2018 Feb; Vol. 178 (2), pp. e111-e113. Date of Electronic Publication: 2017 Dec 22. - Publication Year :
- 2018
- Subjects :
- Aortic Diseases pathology
Child, Preschool
Dental Enamel Hypoplasia pathology
Female
Humans
Metacarpus pathology
Muscular Diseases pathology
Odontodysplasia pathology
Osteoporosis pathology
Polymorphism, Single Nucleotide genetics
Vascular Calcification pathology
Exome Sequencing
Aortic Diseases genetics
Dental Enamel Hypoplasia genetics
Interferon-Induced Helicase, IFIH1 genetics
Metacarpus abnormalities
Muscular Diseases genetics
Mutation, Missense genetics
Odontodysplasia genetics
Osteoporosis genetics
Vascular Calcification genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1365-2133
- Volume :
- 178
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- The British journal of dermatology
- Publication Type :
- Report
- Accession number :
- 29270977
- Full Text :
- https://doi.org/10.1111/bjd.15869