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

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

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

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

New mutations in the hairless gene may cause hair loss and affect bone development.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.

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

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

A mutation in the KRT25 gene causes woolly hair and hair loss.

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A new genetic mutation in mice causes permanent hair loss and skin wrinkling.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A vitamin D receptor mutation causes rickets and affects immune responses.

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

Mutations in the HOXC13 gene cause hair and nail development issues.

The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.

A specific gene mutation causes woolly hair and hair loss.

The rs1128977 gene variant may affect cholesterol and body measurements.

Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.

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