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

A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

Loss of the Y chromosome and UTY gene activity increases cancer risk in men.

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

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

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

Scientists created cell lines to study a genetic skin disorder using CRISPR technology.

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

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

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

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

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

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

A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.

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.

Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.

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

The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

A new mutation in the KRT86 gene causes monilethrix in a Han family.

THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.

The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.

A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.

Monilethrix is linked to a gene cluster on chromosome 12.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

A gene mutation causes monilethrix in a Chinese family.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.