Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

Ravenscroft, Jane C

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