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A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

Specific keratin gene mutations can cause monilethrix.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

Colorectal cancer's ability to spread is due to changes in many genes, not just one.

A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.

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

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

A new gene mutation causes insulin resistance in a girl and her mother.

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

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

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

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

Somatic BHD mutations are rare in Japanese renal tumors.

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

A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.

A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

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

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

Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.

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

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

Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.

Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.

Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.

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

A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.