Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes. [electronic resource]
Producer: 20160926Description: 1505-13 p. digitalISSN:- 1365-2133
- Adult
- Aortic Diseases -- genetics
- Autoimmune Diseases of the Nervous System -- genetics
- Chilblains -- genetics
- Child, Preschool
- DEAD-box RNA Helicases -- genetics
- Dental Enamel Hypoplasia -- genetics
- Heterozygote
- Humans
- Infant
- Interferon-Induced Helicase, IFIH1
- Lupus Erythematosus, Cutaneous -- genetics
- Male
- Metacarpus -- abnormalities
- Muscular Diseases -- genetics
- Mutation -- genetics
- Nervous System Diseases -- genetics
- Nervous System Malformations -- genetics
- Odontodysplasia -- genetics
- Osteoporosis -- genetics
- Phenotype
- Skin Diseases, Genetic -- genetics
- Tooth Loss -- genetics
- Vascular Calcification -- genetics
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.