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A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

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

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

A new rat strain with a specific gene mutation causes hair loss and kidney issues.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

Two new gene mutations cause a rare hair disorder.

A specific gene mutation causes congenital hair loss.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

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

Mutations in the hHb6 gene cause the hair disorder monilethrix.

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

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

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

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

The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.

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

Certain amino acids in 5AR1 and 5AR2 are crucial for binding and resistance to Finasteride.

New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.

Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.

PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.

Defective protein folding due to a mutation is key in ANE syndrome.

A vitamin D receptor mutation causes rickets and affects immune responses.

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.

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

A new gene mutation linked to a skin condition was found in a Spanish family.