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

A new gene mutation causes a rare type of hair loss.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

A specific gene mutation causes complete hair loss in an Irish Traveller family.

A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

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

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 rare genetic mutation found in an Indian family can be detected through prenatal screening.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

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

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

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

Cantú syndrome is caused by mutations in the ABCC9 gene.

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

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

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

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

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

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.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

A rare EGFR mutation in newborns leads to severe health issues and early death.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.