Dale, Russell C <br/><br/>
Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.  [electronic resource] 

 -  American journal of medical genetics. Part A  Apr 2010 
 - 938-42 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.33359  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Child<br/>Child, Preschool<br/>Chronic Disease<br/>Contracture--complications<br/>DNA Mutational Analysis<br/>Family<br/>Female<br/>Genetic Predisposition to Disease<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Joint Diseases--complications<br/>Male<br/>Monomeric GTP-Binding Proteins--genetics<br/>Mutation--genetics<br/>Pedigree<br/>Pregnancy<br/>SAM Domain and HD Domain-Containing Protein 1<br/>Syndrome<br/>Urticaria--complications