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Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

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

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

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

A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

A new mutation in the KRT86 gene causes monilethrix in a Han family.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

A unique gene mutation was found in a family with monilethrix.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

A girl had rickets due to a gene mutation affecting vitamin D response.

A new gene mutation is linked to monilethrix in the studied family.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

A gene mutation causes monilethrix in a Chinese family.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

A gene mutation in mice causes severe skin disorder similar to a human condition.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.