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A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.