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

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

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

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.

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

The LMNA mutation affects skin structure even in asymptomatic carriers.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

Two new gene mutations cause a rare hair disorder.

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

A unique gene mutation was found in a family with monilethrix.

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

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

Mutations in the hHb6 gene cause the hair disorder monilethrix.

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

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

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

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

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.