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A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

Researchers found a non-functional sheep keratin gene due to mutations.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

FGF13 gene changes cause excessive hair growth in a rare condition.

Mutations in the spike protein affect drug binding and effectiveness.

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.

Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.

BLTP1 and KIF27 gene mutations can help breed better wool sheep.

The naked mutation in mice causes hair loss and helps identify keratin genes.

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

A new mutation in the HR gene causes hair loss in a specific family.

A new rat strain with a specific gene mutation causes hair loss and kidney issues.

Different gene mutations cause different types of ichthyosis, with some new mutations found.

A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.

A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.

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

Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

A new method can detect mutations in mice by observing changes in hair follicle cells.

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

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.

A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.