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A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

The G allele of IFITM3 rs12252 is linked to more severe COVID-19.

CARASIL can cause different symptoms even with the same genetic mutation.

A specific gene mutation causes congenital hair loss.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.

The prolactin gene polymorphism doesn't affect cashmere quality in these goats.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

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

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

The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.

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

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

A specific gene variant may increase the risk of developing Alopecia Areata.

A rare EGFR mutation in newborns leads to severe health issues and early death.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

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.

A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.