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The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

A new gene mutation linked to a skin condition was found in a Spanish family.

LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.