Genetics

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

Tangier disease

Congenital sucrase-isomaltase deficiency

HESX1 gene

What is a genetic consultation

Legius syndrome

Asphyxiating thoracic dystrophy

Cytochrome c oxidase deficiency

MN1 C-terminal truncation syndrome

Popliteal pterygium syndrome

WRN gene

Childhood myocerebrohepatopathy spectrum