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A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

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

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

Some women with PCOS have rare genetic variants linked to the condition.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

Genetic variants at 20p11 increase baldness risk in Chinese Han people.

New genetic mutations causing hair loss were found in a Chinese family.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

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

A specific gene mutation causes a severe skin disorder in a family.

A specific gene mutation causes severe skin and nail issues and hair loss.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

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

New markers and pathways have been found in skin tumors, helping better understand and diagnose them.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

A specific gene variant may increase the risk of developing Alopecia Areata.

A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.

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.