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A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

CXCR2 in skin cells promotes tumor growth.

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

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

A new gene mutation causes a rare type of hair loss.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

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

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

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

A new test helps find drugs to treat head and neck cancer by targeting c-Rel.

CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.

CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.

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

Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.

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

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

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

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

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

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.