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A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.

An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.

Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.

The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.

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

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

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

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

LIPH mutations cause woolly hair in some Chinese people.

Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.

A new type of pachyonychia congenita may exist, caused by a different keratin mutation.

Atopic dermatitis patients have much higher acetylcholine levels in their skin, which may cause itching.

A specific gene mutation causes sparse, brittle hair in a family.

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

JAK inhibitors may help improve symptoms in adults with APECED.

A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.

Mutations in specific genes cause different types of ectodermal dysplasias.

A new type of nerve cell involved in itch perception was discovered.

Suppressing the HGPS mutation may improve symptoms and suggest reversibility.

The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

A gene mutation causes monilethrix in a Chinese family.

Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.