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

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

A mutation in the KRTHB5 gene causes hair and nail issues.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

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

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

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

A gene mutation causes woolly hair in a Syrian patient.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

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

Mutations in the LIPH gene cause woolly hair in a child.

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

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

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

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

Mutations in the hHb6 gene cause the hair disorder monilethrix.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

The PP2A-B55α protein is essential for brain and skin development in embryos.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.