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

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

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.

The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

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

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

A gene mutation causes woolly hair in a Syrian patient.

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

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.

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

A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.

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

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

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

A new gene variant in the DSP gene is linked to a unique type of hair loss.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

A specific mutation in PA-PLA1α causes abnormal hair growth.

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.

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

A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.

A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.

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

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

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

Keratin mutations may cause scarring alopecia by damaging hair structure.