Genetics

PAX6 gene

Methylmalonic acidemia with homocystinuria

DUOX2 gene

Lamellar ichthyosis

Transcobalamin deficiency

VPS13B gene

Cystic fibrosis

Surfactant dysfunction

SERPINC1 gene

Mucopolysaccharidosis type VII

Genetic Conditions E

Generalized arterial calcification of infancy