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The combination treatment showed a higher response rate but no significant survival benefits.

A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

Mutations in the LIPH gene cause woolly hair in a child.

The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.

Collagen XVII is crucial for skin cell growth and nail health.

The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

Type XIX Collagen is present in specific skin and hair cells during development.

Researchers found two new genetic variants linked to Alzheimer's disease.

The new model helps understand and develop treatments for genetic skin disorders like AEC.

Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.

A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.

The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.

Certain gene variations increase the risk of alopecia areata in Koreans.

A girl had rickets due to a gene mutation affecting vitamin D response.

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

Mutations in the LSS gene cause a rare type of hereditary hair loss.

CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.

K10 may not prevent tumors as previously thought and might increase benign tumor risk.

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

Basal cell carcinomas need extra mutations to grow from small to large tumors.

Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.