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

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

The PML protein helps prevent skin cancer in mice.

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

Identical p53 gene mutations in different cancers suggest the need for careful treatment.

The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

Defective nuclear transport may cause gene expression changes in Progeria.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

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

The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.

A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.

Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.

A new genetic mutation causing Werner's syndrome was found in an Indian man.

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

Progerin affects cell shape but not hair or skin in mice.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

Genetic variants at 20p11 increase baldness risk in Chinese Han people.

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

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

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.