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A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

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

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

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

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.

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.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

A specific gene mutation causes severe skin and nail issues and hair loss.

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

Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.

New genetic mutations linked to rare skin disorders were found in three newborns.

Mutations in the enzyme don't significantly change how it binds to its specific substances.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.

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

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

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.

A new genetic mutation was found causing hair and eye issues in a boy.

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

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

Different gene mutations cause different types of ichthyosis, with some new mutations found.

Specific mutations in a receptor cause facial abnormalities and hair loss.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.