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Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.

Pachyonychia congenita is linked to a keratin gene on chromosome 17.

Certain gene variations are linked to better memory in healthy Chinese women.

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

Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.

The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.

Gonadal biopsy is the best method to diagnose gonadal dysgenesis.

Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.

The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.

Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.

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

NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.

No significant genetic link to alopecia areata was found in the Jordanian group.

cGVHD often severely affects the skin, causing rapid aging and other issues.

A new mutation in mice causes crooked whiskers and messy hair.

A baby with KID syndrome died from infections and organ failure at 18 months old.

Egfl6 is not needed for zebrafish face development.

Removing SIX1 in fat cells reduces skin fibrosis.

Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.

TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.

A rare gene variant causes hair and nail issues in a family.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.

In alopecia areata, certain immune cells increase and express a protein linked to immune activation.

Early-onset hair loss is linked to Parkinson's disease and decreased fertility.