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A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

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

A specific gene mutation causes long hair in Angora rabbits.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

A new mouse mutation causes skin and hair defects due to a gene change.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.

A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

A new gene mutation causes insulin resistance in a girl and her mother.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related 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.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

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

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.