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

The hedgehog signaling pathway is crucial for hair growth but not for the initial creation of hair follicles.

GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.

Disrupting Acvr1b in mice causes severe hair loss and thicker skin.

Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

A KRT32 gene variant causes loose anagen hair syndrome.

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

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

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.

Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.

LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.

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

Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

Too much keratin 16 in mice skin causes abnormal skin thickening and structure.

BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.

PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.

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

Lack of a key enzyme causes severe skin issues and death in mice.

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

EGFR is essential for normal hair development and follicle differentiation.

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

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.