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

Hair follicles can be used to study gene mutations in Stargardt disease.

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

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

A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

Gefitinib treatment led to unexpected hair growth in two lung cancer patients.

The condition is linked to chromosome 12, but no mutations were found in the known genes.

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

Gene mutations can cause problems in male genital development.

Gene therapy shows promise for treating hair loss by targeting hair follicles.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

Mutations in the Sgk3 gene cause fuzzy hair in mice.

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 Lama3 is linked to a common type of hair loss.

A new mutation in the Hairless gene causes hair loss in two Pakistani families.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.

New mutations in the hairless gene may cause hair loss and affect bone development.

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.