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A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.

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

A specific gene mutation causes a severe skin disorder in a family.

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

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

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

E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

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

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

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

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

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

Two new gene mutations cause a rare hair disorder.

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

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

A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

A unique gene mutation was found in a family with monilethrix.

A new gene mutation is linked to monilethrix in the studied family.

A new mouse mutation causes skin and hair defects due to a gene change.

A specific gene mutation causes long hair in Angora rabbits.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

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

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

A gene mutation in mice causes skin defects and early death.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.