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A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

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

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.

The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

A truncated protein linked to breast cancer may change cell adhesion.

Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.

The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

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

A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.

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

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.

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

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

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

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

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

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.

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

Deleting part of a gene in mice causes wavy hair and high pup loss.