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A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

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

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

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

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

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.

The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

New mutations in the DSG4 gene cause a rare hair condition.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

A specific gene mutation causes complete hair loss in an Irish Traveller family.

Mutations in the KRT85 gene cause hair and nail problems.

FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.

A specific gene mutation causes woolly hair and hair loss.

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.

A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.

Some early COVID-19 mutations in patients predicted future common virus mutations.

Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A specific mutation in PA-PLA1α causes abnormal hair growth.