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A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

Patients with this syndrome can have different responses and worsening resistance to treatment over time.

Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.

Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

Mutations in the HOXC13 gene cause hair and nail development issues.

Masculinization in affected individuals occurs gradually after puberty due to hormone changes.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

HLD10 can include increased body hair and Mongolian spots.

The document's conclusion cannot be provided because the document is not available or cannot be read.

A rare genetic mutation causes severe immune issues, hair loss, and nail problems.

A new genetic mutation was found causing hair and eye issues in a boy.

Hydroxychloroquine effectively treated twenty-nail dystrophy in a patient with alopecia areata.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

Mutations in the KRT85 gene cause hair and nail problems.

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.

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

Some hair loss disorders are caused by genetic mutations affecting hair growth.

The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.

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

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.