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A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.

The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.

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

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.

Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

A mutation in the Sgkl gene causes defective hair growth in mice.

Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.

A specific gene mutation causes woolly hair and hair loss.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

Certain gene variations are found in people with polycystic ovary syndrome.

The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

Two specific genes are more active during hair growth in mice.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

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

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.

UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.

The LMNA mutation affects skin structure even in asymptomatic carriers.

Specific mutations in a receptor cause facial abnormalities and hair loss.

GLI and EGF signalling affect Basal Cell Carcinoma development and could be therapeutic targets.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

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