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A genetic marker linked to a type of hair loss was found in most patients studied.

Genetic screening can help diagnose and manage infertility in Slovenian couples.

Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.

The DQB1*03 allele is linked to higher alopecia areata risk in Italians.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

A gene variant increases the risk of a type of hair loss by affecting hair protein production.

Shorter GGC triplet repeats in the androgen receptor gene are linked to less hair loss in Han men.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

Certain genetic variations can make people more likely to experience hair loss and low white blood cell count from azathioprine.

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

Mutations in the hHb6 gene cause the hair disorder monilethrix.

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

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

The VEGF +405G allele may increase the risk of PCOS in South Indian women.

Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.

Mutations in the KRT16 gene can cause skin and nail disorders.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

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

The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.

A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.

A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

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