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Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

MC4R gene variants not linked to female hair loss.

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

The AMHR2-482A>G gene change is linked to higher PCOS risk.

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

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

Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

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

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

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

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

A new gene mutation causes long hair in some Maine Coon cats.

Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.

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

Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.

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

Variation in the TCHH gene affects wool curliness in sheep.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

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

MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.

Recognizing minor skin lesions can help identify serious cancer syndromes.

A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

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