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New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.

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

Loss of Msx2 function causes eye development issues similar to Peters anomaly.

A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

A specific gene change in APCDD1 increases the risk of hair loss.

Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.

Mutations in the KRT16 gene can cause skin and nail disorders.

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.

Targeting the TNFRSF1B gene may help treat hair loss.

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

A specific gene mutation causes woolly hair and hair loss.

A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.

The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.

NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.

Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.

Connexin mutations can cause various diseases like hearing loss and skin disorders.

The flaky skin mouse mutation is a natural model for studying human psoriasis.

SOX9 is essential for the development of various organs and hair follicles.

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

Seven new genetic risk areas for prostate cancer were found.

Mutations in the DSG4 gene cause specific hair and scalp issues.