Bursztejn, A-C <br/><br/>
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.  [electronic resource] 

 -  The British journal of dermatology  Dec 2015 
 - 1505-13 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1365-2133 
<br/><br/><label>Standard No.: </label>10.1111/bjd.14073  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aortic Diseases--genetics<br/>Autoimmune Diseases of the Nervous System--genetics<br/>Chilblains--genetics<br/>Child, Preschool<br/>DEAD-box RNA Helicases--genetics<br/>Dental Enamel Hypoplasia--genetics<br/>Heterozygote<br/>Humans<br/>Infant<br/>Interferon-Induced Helicase, IFIH1<br/>Lupus Erythematosus, Cutaneous--genetics<br/>Male<br/>Metacarpus--abnormalities<br/>Muscular Diseases--genetics<br/>Mutation--genetics<br/>Nervous System Diseases--genetics<br/>Nervous System Malformations--genetics<br/>Odontodysplasia--genetics<br/>Osteoporosis--genetics<br/>Phenotype<br/>Skin Diseases, Genetic--genetics<br/>Tooth Loss--genetics<br/>Vascular Calcification--genetics