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A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

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.

CARASIL can cause different symptoms even with the same genetic mutation.

Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.

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

A new gene mutation causes insulin resistance in a girl and her mother.

Two new gene mutations cause a rare hair disorder.

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

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.

Defective protein folding due to a mutation is key in ANE syndrome.

A new gene mutation linked to a skin condition was found in a Spanish family.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

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

Researchers found a new mutation causing total hair loss from birth.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

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

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

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

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