Genetics

Genes I

JAK3-deficient severe combined immunodeficiency

Liddle syndrome

D-bifunctional protein deficiency

CHMP2B gene

22q133 deletion syndrome

ACVRL1 gene

CPT1A gene

CLCN7 gene

CHMP2B-related frontotemporal dementia

Familial osteochondritis dissecans

NOD2 gene