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A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

Dermatologists should recognize diverse discoid lupus signs to avoid misdiagnosis.

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.

Anti-Desmocollin 3 antibodies can cause pemphigus-like symptoms in mice.

Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.

Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.

Correcting EDA fibronectin organization and YAP translocation can improve wound healing in fibrotic conditions.

HoxC genes are crucial for normal hair and nail development.

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

Different gene mutations cause different types of ichthyosis, with some new mutations found.

Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.

An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.

A boy's hair turned red because of genetic mutations, not lack of zinc.

A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.

The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

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

ARHGEF3 is essential for proper hair follicle development in mice.

A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.

A child with a rare vitamin D-resistant condition improved with treatment.

A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.

Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.

The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

Individuals with this condition often develop male traits and identities at puberty despite being raised as females.

Epithelial elements in superficial angiomyxomas are non-neoplastic growths mimicking embryogenesis.

TCDD reduces EGF receptors in the liver, affecting growth and development.

Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.