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

Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.

A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.

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

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

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

Genetic variants in specific genes cause a type of hair loss.

Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

Mutations in the SNRPE gene cause hereditary hair loss.

A new mutation in the HR gene causes hair loss in a specific family.

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

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

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

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

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

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

Mutations in specific genes cause different types of ectodermal dysplasias.

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

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

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

Cats with abnormal hair had DSG4 gene changes causing hair problems.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

A mutation in the KRTHB5 gene causes hair and nail issues.

A KRT32 gene variant causes loose anagen hair syndrome.

Researchers found a non-functional sheep keratin gene due to mutations.