Rice, Gillian

Clinical and molecular phenotype of Aicardi-Goutieres syndrome. [electronic resource] - American journal of human genetics Oct 2007 - 713-25 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0002-9297

10.1086/521373 doi


Adolescent
Adult
Basal Ganglia Diseases--cerebrospinal fluid
Brain--pathology
Calcinosis--genetics
Chilblains--genetics
Child
Child, Preschool
DNA Mutational Analysis
Exodeoxyribonucleases--genetics
Female
Humans
Infant
Infant, Newborn
Lymphocytosis--cerebrospinal fluid
Male
Molecular Sequence Data
Mutation
Phenotype
Phosphoproteins--genetics
Ribonuclease H--genetics
Syndrome