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

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

Certain genetic markers may increase or decrease prostate cancer risk.

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

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

Different gene mutations cause different types of ichthyosis, with some new mutations found.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

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

A specific gene mutation causes congenital hair loss.

A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

New mutations in the hairless gene may cause hair loss and affect bone development.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

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

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

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

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

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

The PP2A-B55α protein is essential for brain and skin development in embryos.

Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.

Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.

Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

A gene mutation in Lama3 is linked to a common type of hair loss.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.