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

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

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.

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

FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.

New mutations in the DSG4 gene cause a rare hair condition.

Filaggrin mutations are linked to atopic dermatitis and help explain how genetics and environment affect the disease.

Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.

MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.

LIPH mutations cause woolly hair in some Chinese people.

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

Fatty acid transport protein 4 is essential for skin and hair development.

The same gene mutation can cause different symptoms in family members.

FGF5 gene mutations cause long hair in domestic cats.

A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

The angora mouse mutation causes long hair and hair defects due to a gene deletion.

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

A gene mutation in mice causes skin defects and early death.

The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.

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

A new gene mutation causes a rare type of hair loss.

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

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

A specific gene mutation causes sparse, brittle hair in a family.

A new mouse mutation causes skin and hair issues, influenced by another gene.