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Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

A specific gene mutation causes Olmsted syndrome.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

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

Mutations in β1 integrins cause embryonic death but have milder effects on skin.

Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.

The AMHR2-482A>G gene change is linked to higher PCOS risk.

Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.

Monilethrix is not caused by a metabolic defect.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

SQSTM1 gene issues may increase the risk of alopecia areata.

FTase and GGTase-I are essential for skin keratinocyte health.

Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.

Identical p53 gene mutations in different cancers suggest the need for careful treatment.

A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.

Disrupting the Sox21 gene in mice causes hair loss and regrowth cycles.

Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

PTCH gene mutations contribute to basal cell carcinoma development.

Loss of TET2 increases the risk of skin and oral cancer.