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A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

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

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

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

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

A girl had rickets due to a gene mutation affecting vitamin D response.

Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.

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

Hairless gene not strongly linked to baldness.

A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

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

A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.

New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.

A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

Researchers made a mouse model with curly hair and hair loss by editing a gene.

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

Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.

Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.

Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.

Mutations in keratin genes cause cell fragility and various skin disorders.

Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.

Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.