Genetics

PGAM2 gene

Sjögren-Larsson syndrome

ZFYVE26 gene

Adenosine deaminase deficiency

Platyspondylic lethal skeletal dysplasia Torrance type

Hyperphosphatemic familial tumoral calcinosis

BTK gene

MED13L gene

EGFR gene

Lujan syndrome

OPA1 gene

Retinitis pigmentosa