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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.

Certain genetic variants in keratins increase the risk of tooth decay.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

A mutation in the KRT25 gene causes woolly hair and hair loss.

A specific gene mutation causes varying hair loss severity in a Pakistani family.

Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.

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

The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

Robertsonian translocation can cause recurrent miscarriages.

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

Keratin mutations cause skin diseases and could lead to new treatments.

The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

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

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

A gene mutation in mice causes permanent hair loss and skin issues.

A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.

A boy's hair turned red because of genetic mutations, not lack of zinc.

Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.

External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.

A mutation in the Sgkl gene causes defective hair growth in mice.

Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.

Genetic screening can help diagnose and manage infertility in Slovenian couples.

Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.

Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.