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Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.

Some small molecule antivirals show promise against COVID-19, but more research is needed to understand and improve them.

Diagonal earlobe crease and lipoprotein(a) together help diagnose coronary heart disease.

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

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

A new DSG4 gene mutation causes hair defects in a young girl.

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

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

The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.

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

Cathepsin L deficiency causes hair and skin issues in mice.

Lack of functional CYLD in mice leads to early aging and cancer.

Specific keratin gene mutations can cause monilethrix.

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

A specific gene mutation causes congenital hair loss.

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

Two new gene mutations cause a rare hair disorder.

A new gene mutation is linked to monilethrix in the studied family.

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

Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

A gene mutation in mice causes skin defects and early death.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

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

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