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A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

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

A new DSG4 gene mutation causes hair defects in a young girl.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

A specific gene mutation causes congenital hair loss.

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

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

Cats with abnormal hair had DSG4 gene changes causing hair problems.

A new gene mutation is linked to monilethrix in the studied family.

Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

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

A unique gene mutation was found in a family with monilethrix.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

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

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.

A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A new genetic mutation in the hairless gene causes a rare hair loss disorder.

Some early COVID-19 mutations in patients predicted future common virus mutations.

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