Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. [electronic resource]
- American journal of medical genetics. Part A Jan 2011
- 235-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.33778 doi
Adolescent Chilblains--genetics Female Genes, Dominant--genetics Humans Lupus Erythematosus, Cutaneous--genetics Male Middle Aged Monomeric GTP-Binding Proteins--genetics Mutation--genetics Phenotype SAM Domain and HD Domain-Containing Protein 1